(used for variant description)
(last modified February 15, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_033380.2 in the COL4A5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011977.1, covering COL4A5 transcript NM_033380.2.
(upstream sequence)
. . . . g.5042
gtaggaattgagtgaagaaaaagtttgcaagtctggacagaa c.-241
. . . . . . g.5102
gggaaaagttctcctgagagaccggctttggggaggggaggggggaaggaagagtagctc c.-181
. . . . . . g.5162
cttcttcttcttcttttttttttcttccactcttaaaaagcttctttctcttcacccaag c.-121
. . . . . . g.5222
cctcactgtccctctccggctctagctctctccatataaaccctcaagattatgtcaatt c.-61
. . . . . . g.5282
ggttagagccagccgggaatttcgtgcgggtgctgaaggagctgcgggagccggagaaga c.-1
. . . . . . g.5342
ATGAAACTGCGTGGAGTCAGCCTGGCTGCCGGCTTGTTCTTACTGGCCCTGAGTCTTTGG c.60
M K L R G V S L A A G L F L L A L S L W p.20
. . | 02 . . . . g.104941
GGGCAGCCTGCAGAGGCTGCG | GCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGC c.120
G Q P A E A A | A C Y G C S P G S K C D C p.40
. . | 03 . . . . g.124259
AGTGGCATAAAAGGGGAAAAG | GGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGA c.180
S G I K G E K | G E R G F P G L E G H P G p.60
. . . . . | 04 . g.129047
TTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAG | GGTGATGAT c.240
L P G F P G P E G P P G P R G Q K | G D D p.80
. . . | 05 . . . g.133809
GGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGA | GGTCCTCCTGGACTTCCTGGATTT c.300
G I P G P P G P K G I R | G P P G L P G F p.100
. . | 06 . . . . g.133954
CCAGGGACACCAGGTCTTCCT | GGAATGCCAGGCCACGATGGGGCCCCAGGACCTCAAGGT c.360
P G T P G L P | G M P G H D G A P G P Q G p.120
. . | 07 . . . . g.136605
ATTCCCGGATGCAATGGAACCAAG | GGAGAACGTGGATTTCCAGGCAGTCCCGGTTTTCCT c.420
I P G C N G T K | G E R G F P G S P G F P p.140
. | 08 . . | 09 . . g.138745
GGTTTACAGGGTCCTCCA | GGACCCCCTGGGATCCCAGGTATGAAG | GGTGAACCAGGTAGT c.480
G L Q G P P | G P P G I P G M K | G E P G S p.160
. . . . . . g.138805
ATAATTATGTCATCACTGCCAGGACCAAAGGGTAATCCAGGATATCCAGGTCCTCCTGGA c.540
I I M S S L P G P K G N P G Y P G P P G p.180
| 10 . . . . . . g.141120
ATACAA | GGCCTACCTGGTCCCACTGGTATACCAGGGCCAATTGGTCCCCCAGGACCACCA c.600
I Q | G L P G P T G I P G P I G P P G P P p.200
| 11 . . . | 12 . . g.143249
GGTTTGATG | GGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAG | GGGAATATGGGCTTA c.660
G L M | G P P G P P G L P G P K | G N M G L p.220
. . | 13. . . . g.143480
AATTTCCAGGGACCCAAAGGTGAAAAA | GGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCA c.720
N F Q G P K G E K | G E Q G L Q G P P G P p.240
. . . . . . g.143540
CCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAG c.780
P G Q I S E Q K R P I D V E F Q K G D Q p.260
| 14 . . . . . | 15 . g.145844
| GGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGATACGTGGTCCTCCA | GGTCCC c.840
| G L P G D R G P P G P P G I R G P P | G P p.280
. . . . . | 16 . g.146148
CCAGGTGGTGAGAAAGGTGAGAAGGGTGAGCAAGGAGAGCCAGGCAAAAGA | GGTAAACCA c.900
P G G E K G E K G E Q G E P G K R | G K P p.300
. . . | 17 . . . g.148064
GGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCT | GGTTTGCCTGGTGATCCTGGTTAC c.960
G K D G E N G Q P G I P | G L P G D P G Y p.320
. . . | 18 . . . g.149670
CCTGGTGAACCCGGAAGGGATGGTGAAAAG | GGCCAAAAAGGTGACACTGGCCCACCTGGA c.1020
P G E P G R D G E K | G Q K G D T G P P G p.340
. | 19 . . . . . g.151819
CCTCCTGGACTT | GTAATTCCTAGACCTGGGACTGGTATAACTATAGGAGAAAAAGGAAAC c.1080
P P G L | V I P R P G T G I T I G E K G N p.360
. . . . . . g.151879
ATTGGGTTGCCTGGGTTGCCTGGAGAAAAAGGAGAGCGAGGATTTCCTGGAATACAGGGT c.1140
I G L P G L P G E K G E R G F P G I Q G p.380
. . | 20 . . . . g.156249
CCACCTGGCCTTCCTGGACCTCCAG | GGGCTGCAGTTATGGGTCCTCCTGGCCCTCCTGGA c.1200
P P G L P G P P G | A A V M G P P G P P G p.400
. . . . . . g.156309
TTTCCTGGAGAAAGGGGTCAGAAAGGTGATGAAGGACCACCTGGAATTTCCATTCCTGGA c.1260
F P G E R G Q K G D E G P P G I S I P G p.420
. . . . . . g.156369
CCTCCTGGACTTGACGGACAGCCTGGGGCTCCTGGGCTTCCAGGGCCTCCTGGCCCTGCT c.1320
P P G L D G Q P G A P G L P G P P G P A p.440
. | 21 . . . . g.156758
GGCCCTCACATTCCTCCTA | GTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGA c.1380
G P H I P P S | D E I C E P G P P G P P G p.460
. . . . | 22 . . g.160682
TCTCCAGGTGATAAAGGACTCCAAGGAGAACAAGGAGTGAAAG | GTGACAAAGGTGACACT c.1440
S P G D K G L Q G E Q G V K G | D K G D T p.480
. . . . . . g.160742
TGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGT c.1500
C F N C I G T G I S G P P G Q P G L P G p.500
. | 23 . . . . . g.162198
CTCCCAGGTCCTCCAG | GATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCT c.1560
L P G P P G | S L G F P G Q K G E K G Q A p.520
. . | 24. . . . g.162566
GGTGCAACTGGTCCCAAAGGATTACCA | GGCATTCCAGGAGCTCCAGGTGCTCCAGGCTTT c.1620
G A T G P K G L P | G I P G A P G A P G F p.540
. . . . . . g.162626
CCTGGATCTAAAGGTGAACCTGGTGATATCCTCACTTTTCCAGGAATGAAGGGTGACAAA c.1680
P G S K G E P G D I L T F P G M K G D K p.560
. . . . . . g.162686
GGAGAGTTGGGTTCCCCTGGAGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAG c.1740
G E L G S P G A P G L P G L P G T P G Q p.580
. . . | 25 . . g.163879
GATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCT | GGTGGAATTACTTTTAAGGGT c.1800
D G L P G L P G P K G E P | G G I T F K G p.600
. . . . . . g.163939
GAAAGAGGTCCCCCTGGGAACCCAGGTTTACCAGGCCTCCCAGGGAATATAGGGCCTATG c.1860
E R G P P G N P G L P G L P G N I G P M p.620
. . . . . . g.163999
GGTCCCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGTGGCA c.1920
G P P G F G P P G P V G E K G I Q G V A p.640
. . | 26 . . . g.166581
GGAAATCCAGGCCAGCCAGGAATACCAG | GTCCTAAAGGGGATCCAGGTCAGACTATAACC c.1980
G N P G Q P G I P G | P K G D P G Q T I T p.660
. . . . . . g.166641
CAGCCGGGGAAGCCTGGCTTGCCTGGTAACCCAGGCAGAGATGGTGATGTAGGTCTTCCA c.2040
Q P G K P G L P G N P G R D G D V G L P p.680
| 27 . . . . . . g.167100
G | GTGACCCTGGACTTCCAGGGCAACCAGGCTTGCCAGGGATACCTGGTAGCAAAGGAGAA c.2100
G | D P G L P G Q P G L P G I P G S K G E p.700
. . . . | 28 . . g.168134
CCAGGTATCCCTGGAATTGGGCTTCCTGGACCACCTGGTCCCAAAG | GCTTTCCTGGAATT c.2160
P G I P G I G L P G P P G P K G | F P G I p.720
. . . . . . g.168194
CCAGGACCTCCAGGAGCACCTGGGACACCTGGAAGAATTGGTCTAGAAGGCCCTCCTGGG c.2220
P G P P G A P G T P G R I G L E G P P G p.740
. . | 29 . . . . g.171934
CCACCCGGCTTTCCAGGACCAAAG | GGTGAACCAGGATTTGCATTACCTGGGCCACCTGGG c.2280
P P G F P G P K | G E P G F A L P G P P G p.760
. . . . . . g.171994
CCACCAGGACTTCCAGGTTTCAAAGGAGCACTTGGTCCAAAAGGTGATCGTGGTTTCCCA c.2340
P P G L P G F K G A L G P K G D R G F P p.780
. . . . . | 30 . g.180072
GGACCTCCGGGTCCTCCAGGACGCACTGGCTTAGATGGGCTCCCTGGACCAAAAG | GTGAT c.2400
G P P G P P G R T G L D G L P G P K G | D p.800
. . . . . . g.180132
GTTGGACCAAATGGACAACCTGGACCAATGGGACCTCCTGGGCTGCCAGGAATAGGTGTT c.2460
V G P N G Q P G P M G P P G L P G I G V p.820
. . . . | 31 . g.185426
CAGGGACCACCAGGACCACCAGGGATTCCTGGGCCAATAGGTCAACCTG | GTTTACATGGA c.2520
Q G P P G P P G I P G P I G Q P G | L H G p.840
. . . . . . g.185486
ATACCAGGAGAGAAGGGGGATCCAGGACCTCCTGGACTTGATGTTCCAGGACCCCCAGGT c.2580
I P G E K G D P G P P G L D V P G P P G p.860
. . . . . . g.185546
GAAAGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCA c.2640
E R G S P G I P G A P G P I G P P G S P p.880
. . . | 32. . . g.186982
GGGCTTCCAGGAAAAGCAGGTGCCTCTGGATTTCCAG | GTACCAAAGGTGAAATGGGTATG c.2700
G L P G K A G A S G F P G | T K G E M G M p.900
. . . . . . g.187042
ATGGGACCTCCAGGCCCACCAGGACCTTTGGGAATTCCTGGCAGGAGTGGTGTACCTGGT c.2760
M G P P G P P G P L G I P G R S G V P G p.920
| 33. . . . . . g.187885
CTTAAAG | GTGATGATGGCTTGCAGGGTCAGCCAGGACTTCCTGGCCCTACAGGAGAAAAA c.2820
L K G | D D G L Q G Q P G L P G P T G E K p.940
. . . . . . g.187945
GGTAGTAAAGGAGAGCCTGGCCTTCCAGGCCCTCCTGGACCAATGGATCCAAATCTTCTG c.2880
G S K G E P G L P G P P G P M D P N L L p.960
. . . | 34. . . g.189415
GGCTCAAAAGGAGAGAAGGGGGAACCTGGCTTACCAG | GTATACCTGGAGTTTCAGGGCCA c.2940
G S K G E K G E P G L P G | I P G V S G P p.980
. . . . . . g.189475
AAAGGTTATCAGGGTTTGCCTGGAGACCCAGGGCAACCTGGACTGAGTGGACAACCTGGA c.3000
K G Y Q G L P G D P G Q P G L S G Q P G p.1000
. | 35 . . . . . g.190905
TTACCAGGACCACCAG | GTCCCAAAGGTAACCCTGGTCTCCCTGGACAGCCAGGTCTTATA c.3060
L P G P P G | P K G N P G L P G Q P G L I p.1020
. . . . | 36 . . g.191380
GGACCTCCTGGACTTAAAGGAACCATCGGTGATATGGGTTTTCCAG | GGCCTCAGGGTGTG c.3120
G P P G L K G T I G D M G F P G | P Q G V p.1040
. . . . . . g.191440
GAAGGGCCTCCTGGACCTTCTGGAGTTCCTGGACAACCTGGCTCCCCAGGATTACCTGGA c.3180
E G P P G P S G V P G Q P G S P G L P G p.1060
. . . . . . g.191500
CAGAAAGGCGACAAAGGTGATCCTGGTATTTCAAGCATTGGTCTTCCAGGTCTTCCTGGT c.3240
Q K G D K G D P G I S S I G L P G L P G p.1080
| 37 . . . . . . g.220541
CCAAAG | GGTGAGCCTGGTCTGCCTGGATACCCAGGGAACCCTGGTATCAAAGGTTCTGTG c.3300
P K | G E P G L P G Y P G N P G I K G S V p.1100
. . . . . . g.220601
GGAGATCCTGGTTTGCCCGGATTACCAGGAACCCCTGGAGCAAAAGGACAACCAGGCCTT c.3360
G D P G L P G L P G T P G A K G Q P G L p.1120
. | 38 . . . . . g.230710
CCTGGATTCCCAG | GAACCCCAGGCCCTCCTGGACCAAAAGGTATTAGTGGCCCTCCTGGG c.3420
P G F P G | T P G P P G P K G I S G P P G p.1140
. . . | 39 . . . g.231678
AACCCCGGCCTTCCAGGAGAACCTGGTCCTGTAG | GTGGTGGAGGTCATCCTGGGCAACCA c.3480
N P G L P G E P G P V G | G G G H P G Q P p.1160
. . . . . . g.231738
GGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAG c.3540
G P P G E K G K P G Q D G I P G P A G Q p.1180
. | 40 . . . . . g.232336
AAGGGTGAACCAG | GTCAACCAGGCTTTGGAAACCCAGGACCCCCTGGACTTCCAGGACTT c.3600
K G E P G | Q P G F G N P G P P G L P G L p.1200
| 41 . . . . . . g.233531
TCTG | GCCAAAAGGGTGATGGAGGATTACCTGGGATTCCAGGAAATCCTGGCCTTCCAGGT c.3660
S G | Q K G D G G L P G I P G N P G L P G p.1220
. . . . . . g.233591
CCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCT c.3720
P K G E P G F H G F P G V Q G P P G P P p.1240
. . . . . . g.233651
GGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCCTGGGCCCCAAGGTCCTCCT c.3780
G S P G P A L E G P K G N P G P Q G P P p.1260
. | 42 | 43 | 44 . . . g.242688
GGGAGACCAG | GTCCTACAG | GTTTTCAAG | GTCTACCAGGTCCAGAAGGTCCTCCAGGTCTC c.3840
G R P G | P T G | F Q G | L P G P E G P P G L p.1280
. . . . . . g.242748
CCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAATCCAGGCCAACCTGGGCTACCTGGC c.3900
P G N G G I K G E K G N P G Q P G L P G p.1300
. . . . | 45 . . g.245853
TTGCCTGGTTTGAAAGGAGATCAAGGACCACCAGGACTCCAG | GGTAATCCTGGCCGGCCG c.3960
L P G L K G D Q G P P G L Q | G N P G R P p.1320
. . . . . | 46 . g.246046
GGTCTCAATGGAATGAAAGGAGATCCTGGTCTCCCTGGTGTTCCAGGATTCCCAG | GCATG c.4020
G L N G M K G D P G L P G V P G F P G | M p.1340
. . . . . . g.246106
AAAGGACCCAGTGGAGTACCTGGATCAGCTGGCCCTGAGGGGGAACCGGGACTTATTGGT c.4080
K G P S G V P G S A G P E G E P G L I G p.1360
| 47. . . . . . g.246969
CCTCCAG | GTCCTCCTGGATTACCTGGTCCTTCAGGACAGAGTATCATAATTAAAGGAGAT c.4140
P P G | P P G L P G P S G Q S I I I K G D p.1380
. . . . . . g.247029
GCTGGTCCTCCAGGAATCCCTGGCCAGCCTGGGCTAAAGGGTCTACCAGGACCCCAAGGA c.4200
A G P P G I P G Q P G L K G L P G P Q G p.1400
. | 48 . . . . . g.251231
CCTCAAGGCTTACCAG | GTCCAACTGGCCCTCCAGGAGATCCTGGACGCAATGGACTCCCT c.4260
P Q G L P G | P T G P P G D P G R N G L P p.1420
. . . . . | 49 . g.252643
GGCTTTGATGGTGCAGGAGGGCGCAAAGGAGACCCAGGTCTGCCAGGACAGCCAG | GTACC c.4320
G F D G A G G R K G D P G L P G Q P G | T p.1440
. . . . . . g.252703
CGTGGTTTGGATGGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCAGGTCCCCCTGGA c.4380
R G L D G P P G P D G L Q G P P G P P G p.1460
. . . . . . g.252763
ACCTCCTCTGTTGCACATGGATTTCTTATTACACGCCACAGCCAGACAACGGATGCACCA c.4440
T S S V A H G F L I T R H S Q T T D A P p.1480
. . . . . . g.252823
CAATGCCCACAGGGAACACTTCAGGTCTATGAAGGCTTTTCTCTCCTGTATGTACAAGGA c.4500
Q C P Q G T L Q V Y E G F S L L Y V Q G p.1500
. . | 50 . . . g.257936
AATAAAAGAGCCCACGGTCAAGACTTGG | GGACGGCTGGCAGCTGCCTTCGTCGCTTTAGT c.4560
N K R A H G Q D L G | T A G S C L R R F S p.1520
. . . . . . g.257996
ACCATGCCTTTCATGTTCTGCAACATCAATAATGTTTGCAACTTTGCTTCAAGAAATGAC c.4620
T M P F M F C N I N N V C N F A S R N D p.1540
. . . . . . g.258056
TATTCTTACTGGCTCTCTACCCCAGAGCCCATGCCAATGAGCATGCAACCCCTAAAGGGC c.4680
Y S Y W L S T P E P M P M S M Q P L K G p.1560
. . | 51 . . . . g.259997
CAGAGCATCCAGCCATTCATTAGTCG | ATGTGCAGTATGTGAAGCTCCAGCTGTGGTGATC c.4740
Q S I Q P F I S R | C A V C E A P A V V I p.1580
. . . . . . g.260057
GCAGTTCACAGTCAGACGATCCAGATTCCCCATTGTCCTCAGGGATGGGATTCTCTGTGG c.4800
A V H S Q T I Q I P H C P Q G W D S L W p.1600
. . | 52 . . . . g.260462
ATTGGTTATTCCTTCATGATG | CATACAAGTGCAGGGGCAGAAGGCTCAGGTCAAGCCCTA c.4860
I G Y S F M M | H T S A G A E G S G Q A L p.1620
. . . . . . g.260522
GCCTCCCCTGGTTCCTGCTTGGAAGAGTTTCGTTCAGCTCCCTTCATCGAATGTCATGGG c.4920
A S P G S C L E E F R S A P F I E C H G p.1640
. . . . . . g.260582
AGGGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTG c.4980
R G T C N Y Y A N S Y S F W L A T V D V p.1660
. | 53 . . . . . g.261499
TCAGACATGTTCAG | TAAACCTCAGTCAGAAACGCTGAAAGCAGGAGACTTGAGGACACGA c.5040
S D M F S | K P Q S E T L K A G D L R T R p.1680
. . . g.261535
ATTAGCCGATGTCAAGTGTGCATGAAGAGGACATAA c.5076
I S R C Q V C M K R T X p.1691
. . . . . . g.261595
cattttgaagaattccttttgtgttttaaaatgtgatatatatatatataaaattcctag c.*60
. . . . . . g.261655
gatgcagtgtctcattgtccccaactttactactgctgccgtcaatggtgctactatata c.*120
. . . . . . g.261715
tgatcaagataacatgctgactagtaaccatgaagattcagatgtacctcagcaatgcgc c.*180
. . . . . . g.261775
cagagcaaagtctctattatttttctactaaagaaataaggaagtgaatttactttttgg c.*240
. . . . . . g.261835
gtccagaatgactttctccaagaattataagatgaaaattatatattttgcccagttact c.*300
. . . . . . g.261895
aaaatggtacattaaaaattcaattaagagaagagtcacattgagtaaaataaaagactg c.*360
. . . . . . g.261955
cagtttgtgggaagaattatttttcacggtgctactaatcctgctgtatcccgggttttt c.*420
. . . . . . g.262015
aatataaaggtgttaagcttattttgctttgtaagtaaagaatgtgtatattgtgaacag c.*480
. . . . . . g.262075
ccttttagctcaaaatgttgagtcatttacatatgacatagcatgaatcactctttacag c.*540
. . . . . . g.262135
aaaatgtaggaaaccctagaatacagacagcaatattttatattcatgtttatcaaagtg c.*600
. . . . . . g.262195
agaggacttatattcctacatcaagttactactgagagtaaatttattttgagttttatc c.*660
. . . . . . g.262255
ccgtaagttctgttttgattttttttaaaaaacaaacccttttagtcactttaatcagaa c.*720
. . . . . . g.262315
ttttaaatgttcatgttacataccaaattataatatctaatggagcaatttgtcttttgc c.*780
. . . . . . g.262375
tatattctccaagattatctcttaagaccatatgccccctgttttaatgtttcttacatc c.*840
. . . . . . g.262435
ttgtttttactcatttctgactggacaaagttcttccaaacaattctgagaaacaaaaac c.*900
. . . . . . g.262495
acacacgcagaattaacaattcttttccctgtgcttcttatgtaagaatcctcctgtggc c.*960
. . . . . . g.262555
ctctgcttgtacagaactgggaaacaacacttggttagtctcttttaagttacaaaaagc c.*1020
. . . . . . g.262615
caattgatgtttcttattctttttaaattttaaatattttgttataaatactcacaggat c.*1080
. . . . . . g.262675
accttatttccctagctatcatctcctgacttaatgttttttaaacccaccaatataaat c.*1140
. . g.262702
ttaattaaagatatatgttgtaaggat c.*1167
(downstream sequence)
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