(used for variant description)
(last modified February 15, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001847.2 in the COL4A6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012059.2, covering COL4A6 transcript NM_001847.2.
(upstream sequence)
. . . . g.5043
gctccctgggctgctggtcttctttaccttccagctgctcaca c.-61
. . . . . . g.5103
gaacagagagtttctacatacaagcagaagatgtgaaaatattgggaataaataaagtat c.-1
. | 02 . . . . . g.6527
ATGCTTATAAACAA | GTTGTGGCTGCTCCTGGTTACGTTGTGCCTGACCGAGGAACTGGCA c.60
M L I N K | L W L L L V T L C L T E E L A p.20
| 03 . . . . . . g.133700
GCAGCG | GGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGT c.120
A A | G E K S Y G K P C G G Q D C S G S C p.40
. . | 04. . . . g.223133
CAGTGTTTTCCTGAGAAAGGAGCGAGA | GGACGACCTGGACCAATTGGAATTCAAGGCCCA c.180
Q C F P E K G A R | G R P G P I G I Q G P p.60
. . . . . . g.223193
ACAGGTCCTCAAGGATTCACTGGCTCTACTGGTTTATCGGGATTGAAAGGAGAAAGGGGT c.240
T G P Q G F T G S T G L S G L K G E R G p.80
. . . . | 05 . . g.224750
TTCCCAGGCCTTCTGGGACCTTATGGACCAAAAGGAGATAAG | GGTCCCATGGGAGTTCCT c.300
F P G L L G P Y G P K G D K | G P M G V P p.100
. . | 06. . . . g.230279
GGCTTTCTTGGCATCAATGGGATTCCG | GGCCACCCTGGACAACCAGGCCCCAGAGGCCCA c.360
G F L G I N G I P | G H P G Q P G P R G P p.120
. . . . . . g.230339
CCTGGTCTGGATGGCTGTAATGGAACTCAAGGAGCTGTTGGATTTCCAGGCCCTGATGGC c.420
P G L D G C N G T Q G A V G F P G P D G p.140
. . | 07 . . . . g.232770
TATCCTGGGCTTCTCGGACCACCC | GGGCTTCCTGGTCAGAAAGGATCAAAAGGTGACCCT c.480
Y P G L L G P P | G L P G Q K G S K G D P p.160
. . . | 08 . . . g.234497
GTCCTTGCTCCAGGTAGTTTCAAAGGAATGAAG | GGGGATCCTGGGCTGCCTGGACTGGAT c.540
V L A P G S F K G M K | G D P G L P G L D p.180
| 09 . . . . . g.237945
GGAATCACT | GGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCA c.600
G I T | G P Q G A P G F P G A V G P A G P p.200
. | 10 . . . | 11 . g.239006
CCAGGATTACAA | GGTCCTCCAGGGCCTCCTGGTCCTCTTGGTCCTGAT | GGGAATATGGGG c.660
P G L Q | G P P G P P G P L G P D | G N M G p.220
. . . | 12 . . . g.240092
CTAGGTTTTCAAGGAGAGAAAGGAGTCAAG | GGGGATGTTGGCCTCCCTGGCCCAGCAGGA c.720
L G F Q G E K G V K | G D V G L P G P A G p.240
. . . . . . g.240152
CCTCCACCATCTACTGGAGAGCTGGAATTCATGGGATTCCCCAAAGGGAAGAAAGGATCC c.780
P P P S T G E L E F M G F P K G K K G S p.260
| 13 . . . . . | 14. g.247898
AAG | GGTGAACCAGGGCCTAAGGGTTTTCCAGGCATAAGTGGCCCTCCAGGCTTCCCG | GGC c.840
K | G E P G P K G F P G I S G P P G F P | G p.280
. . . . . . g.247958
CTTGGAACTACTGGAGAAAAGGGAGAAAAGGGAGAAAAGGGAATCCCTGGTTTGCCAGGA c.900
L G T T G E K G E K G E K G I P G L P G p.300
| 15 . . . . . | 16 . g.249896
CCTAGG | GGTCCCATGGGTTCAGAAGGAGTCCAAGGCCCTCCAGGGCAACAG | GGCAAGAAA c.960
P R | G P M G S E G V Q G P P G Q Q | G K K p.320
. . . . | 17 . . g.250792
GGGACCCTGGGATTTCCTGGGCTTAATGGATTCCAAGGAATTGAG | GGTCAAAAGGGTGAC c.1020
G T L G F P G L N G F Q G I E | G Q K G D p.340
. . . . . | 18 . g.251899
ATTGGCCTGCCAGGCCCAGATGTTTTCATCGATATAGATGGTGCTGTGATCTCAG | GTAAT c.1080
I G L P G P D V F I D I D G A V I S G | N p.360
. . . . . . g.251959
CCTGGAGATCCTGGTGTACCTGGCCTCCCAGGCCTTAAAGGAGATGAAGGCATCCAAGGC c.1140
P G D P G V P G L P G L K G D E G I Q G p.380
. . . . | 19 . . g.252958
CTACGTGGCCCTTCTGGTGTCCCTGGATTGCCAGCATTATCAG | GTGTCCCAGGAGCCCTA c.1200
L R G P S G V P G L P A L S G | V P G A L p.400
. . . . . . g.253018
GGGCCTCAGGGATTTCCAGGGCTGAAGGGGGACCAAGGAAACCCAGGCCGTACCACAATT c.1260
G P Q G F P G L K G D Q G N P G R T T I p.420
. . . . . . g.253078
GGAGCAGCTGGCCTCCCTGGCAGAGATGGTTTGCCAGGCCCACCAGGTCCACCAGGCCCA c.1320
G A A G L P G R D G L P G P P G P P G P p.440
| 20 . . . . . . g.254034
CCTA | GTCCAGAATTTGAGACTGAAACTCTACACAACAAAGAGTCAGGGTTCCCTGGTCTC c.1380
P S | P E F E T E T L H N K E S G F P G L p.460
. . . . | 21 . g.255808
CGAGGAGAACAAGGTCCAAAAGGAAACCTAGGCCTCAAAGGAATAAAAG | GAGACTCAGGT c.1440
R G E Q G P K G N L G L K G I K G | D S G p.480
. . . . . . g.255868
TTCTGTGCTTGTGACGGTGGTGTTCCCAACACTGGACCACCCGGGGAACCAGGCCCACCT c.1500
F C A C D G G V P N T G P P G E P G P P p.500
. . . . . . g.255928
GGTCCATGGGGTCTCATAGGCCTTCCAGGCCTTAAAGGAGCCAGAGGAGATCGAGGCTCT c.1560
G P W G L I G L P G L K G A R G D R G S p.520
. . . | 22 . . . g.256477
GGGGGTGCACAGGGCCCAGCAGGGGCTCCA | GGCTTAGTTGGGCCTCTGGGTCCTTCAGGA c.1620
G G A Q G P A G A P | G L V G P L G P S G p.540
. . . . . . g.256537
CCCAAAGGAAAGAAGGGGGAACCAATTCTCAGTACAATCCAAGGAATGCCAGGAGATCGG c.1680
P K G K K G E P I L S T I Q G M P G D R p.560
. . . . . . g.256597
GGTGATTCTGGCTCCCAGGGCTTCCGTGGTGTAATAGGAGAACCAGGCAAGGACGGAGTA c.1740
G D S G S Q G F R G V I G E P G K D G V p.580
. . . | 23 . . . g.257225
CCAGGTTTACCAGGTCTGCCAGGCCTTCCG | GGTGATGGTGGACAGGGCTTCCCAGGTGAA c.1800
P G L P G L P G L P | G D G G Q G F P G E p.600
. . . . . . g.257285
AAGGGGTTACCTGGACTTCCTGGTGAAAAAGGCCATCCTGGTCCACCTGGCCTCCCAGGA c.1860
K G L P G L P G E K G H P G P P G L P G p.620
. . . . . . g.257345
AATGGGTTACCAGGACTTCCTGGACCCCGTGGGCTTCCTGGAGATAAAGGCAAGGATGGA c.1920
N G L P G L P G P R G L P G D K G K D G p.640
. . . | 24 . . . g.263532
TTACCGGGACAACAAGGCCTTCCCGGATCTAAGG | GAATCACCCTGCCCTGTATTATTCCT c.1980
L P G Q Q G L P G S K G | I T L P C I I P p.660
. . . . | 25 . . g.263866
GGGTCATACGGTCCATCAGGATTTCCAGGCACTCCCGGATTCCCAG | GCCCTAAAGGGTCT c.2040
G S Y G P S G F P G T P G F P G | P K G S p.680
. . . . . . g.263926
CGAGGCCTCCCTGGGACCCCAGGCCAGCCTGGGTCAAGTGGAAGTAAAGGAGAGCCAGGG c.2100
R G L P G T P G Q P G S S G S K G E P G p.700
. . . | 26 . . . g.265062
AGTCCAGGATTGGTTCATCTTCCTGAATTACCAG | GATTTCCTGGACCTCGTGGGGAGAAG c.2160
S P G L V H L P E L P G | F P G P R G E K p.720
. . . . . . g.265122
GGCTTGCCTGGGTTTCCTGGGCTCCCTGGAAAAGATGGCTTGCCTGGGATGATTGGCAGT c.2220
G L P G F P G L P G K D G L P G M I G S p.740
. . . . . . g.265182
CCAGGCTTACCTGGTTCCAAGGGAGCCACTGGTGACATCTTTGGTGCTGAAAATGGTGCT c.2280
P G L P G S K G A T G D I F G A E N G A p.760
. . . . . . g.265242
CCGGGGGAACAAGGCCTACAAGGATTAACAGGGCACAAAGGATTTCTTGGAGACTCTGGC c.2340
P G E Q G L Q G L T G H K G F L G D S G p.780
. | 27 . . . . . g.265673
CTTCCAGGACTCAAGG | GTGTGCACGGGAAGCCTGGCTTACTAGGCCCCAAAGGTGAGCGG c.2400
L P G L K G | V H G K P G L L G P K G E R p.800
. . . . . . g.265733
GGCAGCCCTGGGACACCAGGACAGGTGGGACAGCCAGGCACCCCAGGATCTAGTGGTCCA c.2460
G S P G T P G Q V G Q P G T P G S S G P p.820
. . . . . | 28 g.267465
TATGGCATCAAGGGCAAATCTGGGCTCCCAGGAGCACCAGGCTTCCCAGGCATCTCAG | GA c.2520
Y G I K G K S G L P G A P G F P G I S G | p.840
. . . . . . g.267525
CATCCTGGAAAGAAAGGAACAAGAGGCAAGAAAGGTCCTCCTGGATCAATTGTAAAGAAA c.2580
H P G K K G T R G K K G P P G S I V K K p.860
. . . . . . g.267585
GGGCTGCCAGGGCTAAAAGGCCTTCCTGGAAATCCAGGCCTAGTAGGACTGAAAGGAAGC c.2640
G L P G L K G L P G N P G L V G L K G S p.880
. . . . | 29 . g.268688
CCAGGCTCTCCAGGGGTCGCTGGGTTGCCAGCCCTCTCTGGACCCAAGG | GAGAGAAGGGG c.2700
P G S P G V A G L P A L S G P K G | E K G p.900
. . . . . . g.268748
TCTGTTGGATTCGTAGGTTTTCCAGGAATACCAGGTCTGCCTGGTATTCCTGGAACAAGA c.2760
S V G F V G F P G I P G L P G I P G T R p.920
. . . . . . g.268808
GGATTAAAAGGAATTCCAGGATCAACTGGAAAAATGGGACCATCTGGACGTGCTGGTACT c.2820
G L K G I P G S T G K M G P S G R A G T p.940
. | 30 . . . . . g.269306
CCTGGTGAAAAGG | GAGACAGAGGCAATCCGGGGCCAGTCGGAATACCTAGTCCAAGACGT c.2880
P G E K G | D R G N P G P V G I P S P R R p.960
. . . . . . g.269366
CCAATGTCAAACCTTTGGCTCAAAGGAGACAAAGGCTCTCAAGGCTCAGCCGGATCCAAT c.2940
P M S N L W L K G D K G S Q G S A G S N p.980
. | 31 . . . . g.269894
GGATTTCCTGGGCCAAGAG | GTGACAAAGGAGAGGCTGGTCGACCTGGACCACCAGGCCTA c.3000
G F P G P R G | D K G E A G R P G P P G L p.1000
. . . . . . g.269954
CCTGGAGCTCCTGGCCTCCCAGGCATTATCAAAGGAGTTAGTGGAAAGCCAGGGCCCCCT c.3060
P G A P G L P G I I K G V S G K P G P P p.1020
. . . . . . g.270014
GGCTTCATGGGAATCCGGGGCTTACCTGGCCTGAAGGGGTCCTCTGGGATCACAGGTTTC c.3120
G F M G I R G L P G L K G S S G I T G F p.1040
. . | 32 . . . . g.271981
CCAGGAATGCCAGGAGAAAGT | GGTTCACAAGGTATCAGAGGGTCGCCTGGACTCCCAGGA c.3180
P G M P G E S | G S Q G I R G S P G L P G p.1060
. . | 33 . . . . g.273048
GCATCTGGTCTCCCAGGCCTGAAAG | GAGACAACGGCCAGACAGTTGAAATTTCCGGTAGC c.3240
A S G L P G L K G | D N G Q T V E I S G S p.1080
. . . . | 34 . . g.273577
CCAGGACCCAAGGGACAGCCTGGCGAATCTGGTTTTAAAG | GCACAAAAGGAAGAGATGGA c.3300
P G P K G Q P G E S G F K G | T K G R D G p.1100
. . . . . . g.273637
CTAATAGGCAATATAGGCTTCCCTGGAAACAAAGGTGAAGATGGAAAAGTTGGTGTTTCT c.3360
L I G N I G F P G N K G E D G K V G V S p.1120
. . | 35 . . . g.273790
GGAGATGTTGGCCTTCCTGGAGCTCCAG | GATTTCCAGGAGTTGCCGGCATGAGAGGAGAA c.3420
G D V G L P G A P G | F P G V A G M R G E p.1140
. . . . . . g.273850
CCAGGACTTCCAGGTTCTTCTGGTCACCAAGGGGCAATTGGGCCTCTAGGATCCCCCGGA c.3480
P G L P G S S G H Q G A I G P L G S P G p.1160
. | 36 . . . . . g.274502
TTAATAGGACCCAAAG | GCTTCCCTGGATTTCCTGGTTTACATGGACTGAATGGGCTTCCG c.3540
L I G P K G | F P G F P G L H G L N G L P p.1180
. . | 37 . . . g.274886
GGCACCAAGGGTACCCATGGCACTCCAG | GACCTAGTATCACCGGTGTGCCTGGGCCTGCT c.3600
G T K G T H G T P G | P S I T G V P G P A p.1200
. . . . . . g.274946
GGTCTCCCTGGACCCAAAGGAGAAAAAGGATATCCAGGAATTGGCATCGGAGCTCCAGGG c.3660
G L P G P K G E K G Y P G I G I G A P G p.1220
. . . | 38 . . . g.279014
AAGCCGGGCCTGAGAGGGCAAAAAGGTGATCGAG | GTTTCCCAGGTCTCCAGGGCCCTGCT c.3720
K P G L R G Q K G D R G | F P G L Q G P A p.1240
. . . . . . g.279074
GGTCTCCCCGGTGCCCCAGGCATCTCCTTGCCCTCACTCATAGCAGGACAGCCTGGTGAC c.3780
G L P G A P G I S L P S L I A G Q P G D p.1260
. . . | 39 . . . g.279465
CCCGGGCGACCAGGCCTAGATGGAGAACGAG | GCCGCCCAGGCCCCGCTGGACCCCCAGGT c.3840
P G R P G L D G E R G | R P G P A G P P G p.1280
. . . . . . g.279525
CCCCCTGGGCCATCCTCGAATCAAGGCGACACCGGAGACCCTGGCTTCCCTGGAATTCCT c.3900
P P G P S S N Q G D T G D P G F P G I P p.1300
. . . . . . g.279585
GGACCTAAAGGGCCTAAGGGAGACCAAGGAATTCCAGGTTTTTCTGGCCTCCCTGGAGAG c.3960
G P K G P K G D Q G I P G F S G L P G E p.1320
. | 40 . . . . . g.279823
CTAGGACTGAAAG | GCATGAGAGGTGAGCCTGGCTTCATGGGGACTCCAGGCAAGGTTGGG c.4020
L G L K G | M R G E P G F M G T P G K V G p.1340
. . . . . | 41 . g.281444
CCACCTGGAGACCCAGGATTTCCCGGAATGAAGGGGAAGGCAGGGCCAAGAG | GCTCTTCT c.4080
P P G D P G F P G M K G K A G P R G | S S p.1360
. . . . . . g.281504
GGCCTCCAAGGTGATCCTGGACAAACACCAACTGCAGAAGCTGTCCAGGTTCCTCCTGGA c.4140
G L Q G D P G Q T P T A E A V Q V P P G p.1380
. . . . . . g.281564
CCCTTGGGTCTACCAGGGATCGATGGCATCCCTGGCCTCACTGGGGACCCTGGGGCTCAA c.4200
P L G L P G I D G I P G L T G D P G A Q p.1400
. | 42 . . . . g.282780
GGCCCTGTAGGCCTACAAG | GCTCCAAAGGTTTACCTGGCATCCCCGGTAAAGATGGCCCC c.4260
G P V G L Q G | S K G L P G I P G K D G P p.1420
. . . . . . g.282840
AGTGGGCTCCCAGGCCCACCTGGGGCTCTTGGTGATCCTGGTCTGCCTGGACTGCAAGGC c.4320
S G L P G P P G A L G D P G L P G L Q G p.1440
. | 43 . . . . . g.283864
CCTCCAGGATTTGAAG | GAGCTCCAGGGCAGCAAGGCCCCTTCGGGATGCCTGGAATGCCT c.4380
P P G F E G | A P G Q Q G P F G M P G M P p.1460
. . . . . . g.283924
GGCCAGAGCATGAGAGTGGGCTACACGTTGGTAAAGCACAGCCAGTCGGAACAGGTGCCC c.4440
G Q S M R V G Y T L V K H S Q S E Q V P p.1480
. . . . . . g.283984
CCGTGTCCCATCGGGATGAGCCAGCTGTGGGTGGGGTACAGCTTACTGTTTGTGGAGGGG c.4500
P C P I G M S Q L W V G Y S L L F V E G p.1500
. . | 44 . . . g.284758
CAAGAGAAAGCCCACAACCAGGACCTGG | GCTTTGCTGGCTCCTGTCTGCCCCGCTTCAGC c.4560
Q E K A H N Q D L G | F A G S C L P R F S p.1520
. . . . . . g.284818
ACCATGCCCTTCATCTACTGCAACATCAACGAGGTGTGCCACTATGCCAGGCGCAATGAT c.4620
T M P F I Y C N I N E V C H Y A R R N D p.1540
. . . . . . g.284878
AAATCTTACTGGCTCTCCACTACCGCCCCTATCCCCATGATGCCCGTCAGCCAGACCCAG c.4680
K S Y W L S T T A P I P M M P V S Q T Q p.1560
. . . . . . g.284938
ATTCCCCAGTACATCAGCCGCTGCTCTGTGTGTGAGGCACCCTCGCAAGCCATTGCTGTG c.4740
I P Q Y I S R C S V C E A P S Q A I A V p.1580
. . . . . . g.284998
CACAGCCAGGACATCACCATCCCGCAGTGCCCCCTGGGCTGGCGCAGCCTCTGGATTGGG c.4800
H S Q D I T I P Q C P L G W R S L W I G p.1600
. | 45 . . . . . g.287259
TACTCTTTCCTCATG | CACACTGCCGCTGGTGCCGAGGGTGGAGGCCAGTCCCTGGTCTCA c.4860
Y S F L M | H T A A G A E G G G Q S L V S p.1620
. . . . . . g.287319
CCTGGCTCCTGCCTAGAGGACTTTCGGGCCACTCCTTTCATCGAATGCAGTGGTGCCCGA c.4920
P G S C L E D F R A T P F I E C S G A R p.1640
. . . . . . g.287379
GGCACCTGCCACTACTTTGCAAACAAGTACAGTTTCTGGTTGACCACAGTGGAGGAGAGG c.4980
G T C H Y F A N K Y S F W L T T V E E R p.1660
. . . . . . g.287439
CAGCAGTTTGGGGAGTTGCCTGTGTCTGAAACGCTGAAAGCTGGGCAGCTCCACACTCGA c.5040
Q Q F G E L P V S E T L K A G Q L H T R p.1680
. . . g.287475
GTCAGTCGCTGCCAGGTGTGTATGAAAAGCCTGTAG c.5076
V S R C Q V C M K S L X p.1691
. . . . . . g.287535
ggtggcacctgccactctgccccttgccctcccctgcccctcacaacagtcacctcacaa c.*60
. . . . . . g.287595
acctgaatggtctgaagaaggaaggcctgagcccctttgcctgtcaagttgtacattgga c.*120
. . . . . . g.287655
gtctcatttgggctagactaccggacactcgtcaccccagccctcgggtccatagagatg c.*180
. . . . . . g.287715
agcccaccctgctgagatctgctgtcctgtttctgtcaagctggtgctactgtttgattt c.*240
. . . . . . g.287775
ggatgattgtgtgactattcatggctacctcagaaagatttgatgggccacaactgtctt c.*300
. . . . . . g.287835
agactgctagctttctccttaccgtcttgatcggaaagctcttcctaatcgctaatcagt c.*360
. . . . . . g.287895
catttcttcatgtacagaggtcagcacacattatttggcttaaaccagaacccagtgttt c.*420
. . . . . . g.287955
ccacacttaaattctctaaccgaatattcatggatggctcaagtctgcacagagcaagtc c.*480
. . . . . . g.288015
ctcactcttcaaggaggcccactgtgtctaggcaggcaagagaattgaaatgaggtgcca c.*540
. . . . . . g.288075
cccagtagcccagagtgagctttagctctctctagaatgagcaagactgggccccacatg c.*600
. . . . . . g.288135
gcttagagaggcttgaaggccagcagctgggttgggggtggtggtcattaatggcatatg c.*660
. . . . . . g.288195
gtcctagacaaaccatctcctccttgccggctccccctccagccagagacagaggatgtg c.*720
. . . . . . g.288255
gcctggttcaaagtaaagcagaggatgcaacaaatgtggccaagcctatcaaaggaaatg c.*780
. . . . . . g.288315
agaatgacagccttttttcctgggccagaagtagaggggtgggtgcgtaaggatgtgtga c.*840
. . . . . . g.288375
gttttgcttttgactccaggaacaaaaaggtaaatcccacatcccagtttctcagaagtc c.*900
. . . . . . g.288435
cctgtttattccaaatgccatccagatgtgtgcaatgtggcaaactgaagctgcacagtg c.*960
. . . . . . g.288495
ttggtttccttgtattctgaggatgttaaagactttgttaaatggttatccaattgctct c.*1020
. . . . . . g.288555
ttcacaggtagcctattaaactattttaatatgtttttttaaacctcataaaaatctagc c.*1080
. . . . . . g.288615
acactcttctcttgagcagttagcagacctaaagcaagcctgaattggctatgcagtaca c.*1140
. . . . . . g.288675
ttgtattctgtttgggggaatttgttttagccattttctttaattaccagttttccagaa c.*1200
. . . . . . g.288735
cactcttagctatgttgacatgaggcagttccttccaggtgattctgtttccttaagtat c.*1260
. . . . . . g.288795
tatataaactgtgccaatacagacaaagcataatcaatataatctgaattattgttatct c.*1320
. . . . . . g.288855
ttacctcctgagtaataagcatggtgtcagttttgtacatagcaaataaaataaatgaaa c.*1380
. g.288868
tctgaacatgtga c.*1393
(downstream sequence)
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