(used for variant description)
(last modified February 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001845.4 in the COL4A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011544.1, covering COL4A1 transcript NM_001845.4.
(upstream sequence)
g.5002
gc c.-121
. . . . . . g.5062
ttggagccgccgcacccgggacggtgcgtagcgctggaagtccggccttccgagagctag c.-61
. . . . . . g.5122
ctgtccgccgcggcccccgcacgccgggcagccgtccctcgccgcctcgggcgcgccacc c.-1
. . . . . . g.5182
ATGGGGCCCCGGCTCAGCGTCTGGCTGCTGCTGCTGCCCGCCGCCCTTCTGCTCCACGAG c.60
M G P R L S V W L L L L P A A L L L H E p.20
. . | 02 . . . . g.69451
GAGCACAGCCGGGCCGCTGCGAAG | GGTGGCTGTGCTGGCTCTGGCTGTGGCAAATGTGAC c.120
E H S R A A A K | G G C A G S G C G K C D p.40
. . | 03 . . . . g.98170
TGCCATGGAGTGAAGGGACAAAAG | GGTGAAAGAGGCCTCCCGGGGTTACAAGGTGTCATT c.180
C H G V K G Q K | G E R G L P G L Q G V I p.60
. . . . . | 04 . g.98329
GGGTTTCCTGGAATGCAAGGACCTGAGGGGCCACAGGGACCACCAGGACAAAAG | GGTGAT c.240
G F P G M Q G P E G P Q G P P G Q K | G D p.80
. . . | 05 . . g.99552
ACTGGAGAACCAGGACTACCTGGAACAAAAGGGACAAGA | GGACCTCCGGGAGCATCTGGC c.300
T G E P G L P G T K G T R | G P P G A S G p.100
. . | 06 . . . . g.99706
TACCCTGGAAACCCAGGACTTCCC | GGAATTCCTGGCCAAGACGGCCCGCCAGGCCCCCCA c.360
Y P G N P G L P | G I P G Q D G P P G P P p.120
. . | 07. . . . g.100260
GGTATTCCAGGATGCAATGGCACAAAG | GGGGAGAGAGGGCCGCTCGGGCCTCCTGGCTTG c.420
G I P G C N G T K | G E R G P L G P P G L p.140
. . | 08 . . | 09 . g.101949
CCTGGTTTCGCTGGAAATCCC | GGACCACCAGGCTTACCAGGGATGAAG | GGTGATCCAGGT c.480
P G F A G N P | G P P G L P G M K | G D P G p.160
. . . . . . g.102009
GAGATACTTGGCCATGTGCCCGGGATGCTGTTGAAAGGTGAAAGAGGATTTCCCGGAATC c.540
E I L G H V P G M L L K G E R G F P G I p.180
. | 10 . . . . . g.102155
CCAGGGACTCCA | GGCCCACCAGGACTGCCAGGGCTTCAAGGTCCTGTTGGGCCTCCAGGA c.600
P G T P | G P P G L P G L Q G P V G P P G p.200
. | 11 . . . . | 12 . g.103268
TTTACCGGACCACCA | GGTCCCCCAGGCCCTCCCGGCCCTCCAGGTGAAAAG | GGACAAATG c.660
F T G P P | G P P G P P G P P G E K | G Q M p.220
. . . | 13 . . . g.104687
GGCTTAAGTTTTCAAGGACCAAAAGGTGACAAG | GGTGACCAAGGGGTCAGTGGGCCTCCA c.720
G L S F Q G P K G D K | G D Q G V S G P P p.240
. . . . . . g.104747
GGAGTACCAGGACAAGCTCAAGTTCAAGAAAAAGGAGACTTCGCCACCAAGGGAGAAAAG c.780
G V P G Q A Q V Q E K G D F A T K G E K p.260
| 14 . . | 15. . . . g.105467
| GGCCAAAAAGGTGAACCTGGATTTCAG | GGGATGCCAGGGGTCGGAGAGAAAGGTGAACCC c.840
| G Q K G E P G F Q | G M P G V G E K G E P p.280
. | 16 . . . . g.106653
GGAAAACCAGGACCCAGA | GGCAAACCCGGAAAAGATGGTGACAAAGGGGAAAAAGGGAGT c.900
G K P G P R | G K P G K D G D K G E K G S p.300
| 17 . . . . . | 18. g.108545
CCC | GGTTTTCCTGGTGAACCCGGGTACCCAGGACTCATAGGCCGCCAGGGCCCGCAG | GGA c.960
P | G F P G E P G Y P G L I G R Q G P Q | G p.320
. . . | 19 . . g.110648
GAAAAGGGTGAAGCAGGTCCTCCTGGCCCACCTGGAATT | GTTATAGGCACAGGACCTTTG c.1020
E K G E A G P P G P P G I | V I G T G P L p.340
. . . . . . g.110708
GGAGAAAAAGGAGAGAGGGGCTACCCTGGAACTCCGGGGCCAAGAGGAGAGCCAGGCCCA c.1080
G E K G E R G Y P G T P G P R G E P G P p.360
| 20 . . . . | 21 . . g.113538
AAAG | GTTTCCCAGGACTACCAGGCCAACCCGGACCTCCAG | GCCTCCCTGTACCTGGGCAG c.1140
K G | F P G L P G Q P G P P G | L P V P G Q p.380
. . . . . . g.113598
GCTGGTGCCCCTGGCTTCCCTGGTGAAAGAGGAGAAAAAGGTGACCGAGGATTTCCTGGT c.1200
A G A P G F P G E R G E K G D R G F P G p.400
. . . . . . g.113658
ACATCTCTGCCAGGACCAAGTGGAAGAGATGGGCTCCCGGGTCCTCCTGGTTCCCCTGGG c.1260
T S L P G P S G R D G L P G P P G S P G p.420
. . | 22 . . . . g.117066
CCCCCTGGGCAGCCTGGCTACACAA | ATGGAATTGTGGAATGTCAGCCCGGACCTCCAGGT c.1320
P P G Q P G Y T N | G I V E C Q P G P P G p.440
. . . . . . g.117126
GACCAGGGTCCTCCTGGAATTCCAGGGCAGCCAGGATTTATAGGCGAAATTGGAGAGAAA c.1380
D Q G P P G I P G Q P G F I G E I G E K p.460
| 23 . . . . . . g.119295
G | GTCAAAAAGGAGAGAGTTGCCTCATCTGTGATATAGACGGATATCGGGGGCCTCCCGGG c.1440
G | Q K G E S C L I C D I D G Y R G P P G p.480
. . | 24 . . . . g.119900
CCACAGGGACCCCCGGGAGAAATAG | GTTTCCCAGGGCAGCCAGGGGCCAAGGGCGACAGA c.1500
P Q G P P G E I G | F P G Q P G A K G D R p.500
. . . | 25 . . . g.124844
GGTTTGCCTGGCAGAGATGGTGTTGCAGGAGTGCCA | GGCCCTCAAGGTACACCAGGGCTG c.1560
G L P G R D G V A G V P | G P Q G T P G L p.520
. . . . . . g.124904
ATAGGCCAGCCAGGAGCCAAGGGGGAGCCTGGTGAGTTTTATTTCGACTTGCGGCTCAAA c.1620
I G Q P G A K G E P G E F Y F D L R L K p.540
. . . . . . g.124964
GGTGACAAAGGAGACCCAGGCTTTCCAGGACAGCCCGGCATGACAGGGAGAGCGGGTTCT c.1680
G D K G D P G F P G Q P G M T G R A G S p.560
. . . . | 26 . g.125608
CCTGGAAGAGATGGCCATCCGGGTCTTCCTGGCCCCAAGGGCTCGCCG | GGTTCTGTAGGA c.1740
P G R D G H P G L P G P K G S P | G S V G p.580
. . . . . . g.125668
TTGAAAGGAGAGCGTGGCCCCCCTGGAGGAGTTGGATTCCCAGGCAGTCGTGGTGACACC c.1800
L K G E R G P P G G V G F P G S R G D T p.600
. . . . . . g.125728
GGCCCCCCTGGGCCTCCAGGATATGGTCCTGCTGGTCCCATTGGTGACAAAGGACAAGCA c.1860
G P P G P P G Y G P A G P I G D K G Q A p.620
. . . | 27. . . g.128896
GGCTTTCCTGGAGGCCCTGGATCCCCAGGCCTGCCAG | GTCCAAAGGGTGAACCAGGAAAA c.1920
G F P G G P G S P G L P G | P K G E P G K p.640
. . . . . . g.128956
ATTGTTCCTTTACCAGGCCCCCCTGGAGCAGAAGGACTGCCGGGGTCCCCAGGCTTCCCA c.1980
I V P L P G P P G A E G L P G S P G F P p.660
. | 28 . . . . . g.129102
GGTCCCCAAG | GAGACCGAGGCTTTCCCGGAACCCCAGGAAGGCCAGGCCTGCCAGGAGAG c.2040
G P Q G | D R G F P G T P G R P G L P G E p.680
. . . . . | 29 . g.130765
AAGGGCGCTGTGGGCCAGCCAGGCATTGGATTTCCAGGGCCCCCCGGCCCCAAAG | GTGTT c.2100
K G A V G Q P G I G F P G P P G P K G | V p.700
. . . . . . g.130825
GACGGCTTACCTGGAGACATGGGGCCACCGGGGACTCCAGGTCGCCCGGGATTTAATGGC c.2160
D G L P G D M G P P G T P G R P G F N G p.720
. . . | 30 . . . g.132755
TTACCTGGGAACCCAGGTGTGCAGGGCCAGAAG | GGAGAGCCTGGAGTTGGTCTACCGGGA c.2220
L P G N P G V Q G Q K | G E P G V G L P G p.740
. . . . . . g.132815
CTCAAAGGTTTGCCAGGTCTTCCCGGCATTCCTGGCACACCCGGGGAGAAGGGGAGCATT c.2280
L K G L P G L P G I P G T P G E K G S I p.760
. . . . . . g.132875
GGGGTACCAGGCGTTCCTGGAGAACATGGAGCGATCGGACCCCCTGGGCTTCAGGGGATC c.2340
G V P G V P G E H G A I G P P G L Q G I p.780
| 31 . . . . . . g.133169
AGAG | GTGAACCGGGACCTCCTGGATTGCCAGGCTCCGTGGGGTCTCCAGGAGTTCCAGGA c.2400
R G | E P G P P G L P G S V G S P G V P G p.800
. . . . . | 32 g.133920
ATAGGCCCCCCTGGAGCTAGGGGTCCCCCTGGAGGACAGGGACCACCGGGGTTGTCAG | GC c.2460
I G P P G A R G P P G G Q G P P G L S G | p.820
. . . . . . g.133980
CCTCCTGGAATAAAAGGAGAGAAGGGTTTCCCCGGATTCCCTGGACTGGACATGCCGGGC c.2520
P P G I K G E K G F P G F P G L D M P G p.840
. . . . . . g.134040
CCTAAAGGAGATAAAGGGGCTCAAGGACTCCCTGGCATAACGGGACAGTCGGGGCTCCCT c.2580
P K G D K G A Q G L P G I T G Q S G L P p.860
. . . . | 33 . . g.134232
GGCCTTCCTGGACAGCAGGGGGCTCCTGGGATTCCTGGGTTTCCAG | GTTCCAAGGGAGAA c.2640
G L P G Q Q G A P G I P G F P G | S K G E p.880
. . . . . . g.134292
ATGGGCGTCATGGGGACCCCCGGGCAGCCGGGCTCACCAGGACCAGTGGGTGCTCCTGGA c.2700
M G V M G T P G Q P G S P G P V G A P G p.900
. | 34 . . . . . g.135156
TTACCGGGTGAAAAAG | GGGACCATGGCTTTCCGGGCTCCTCAGGACCCAGGGGAGACCCT c.2760
L P G E K G | D H G F P G S S G P R G D P p.920
. . . . . . g.135216
GGCTTGAAAGGTGATAAGGGGGATGTCGGTCTCCCTGGCAAGCCTGGCTCCATGGATAAG c.2820
G L K G D K G D V G L P G K P G S M D K p.940
. . . . | 35 . g.135436
GTGGACATGGGCAGCATGAAGGGCCAGAAAGGAGACCAAGGAGAGAAAG | GACAAATTGGA c.2880
V D M G S M K G Q K G D Q G E K G | Q I G p.960
. . . . . . g.135496
CCAATTGGTGAGAAGGGATCCCGAGGAGACCCTGGGACCCCAGGAGTGCCTGGAAAGGAC c.2940
P I G E K G S R G D P G T P G V P G K D p.980
. . | 36 . . . g.135668
GGGCAGGCAGGACAGCCTGGGCAGCCAG | GACCTAAAGGTGATCCAGGTATAAGTGGAACC c.3000
G Q A G Q P G Q P G | P K G D P G I S G T p.1000
. . . . . | 37 g.136794
CCAGGTGCTCCAGGACTTCCGGGACCAAAAGGATCTGTTGGTGGAATGGGCTTGCCAG | GA c.3060
P G A P G L P G P K G S V G G M G L P G | p.1020
. . . . . . g.136854
ACACCTGGAGAGAAAGGTGTGCCTGGCATCCCTGGCCCACAAGGTTCACCTGGCTTACCT c.3120
T P G E K G V P G I P G P Q G S P G L P p.1040
. . . . . . g.136914
GGAGACAAAGGTGCAAAAGGAGAGAAAGGGCAGGCAGGCCCACCTGGCATAGGCATCCCA c.3180
G D K G A K G E K G Q A G P P G I G I P p.1060
. | 38 . . . . g.137442
GGGCTGCGAGGTGAAAAG | GGAGATCAAGGGATAGCGGGTTTCCCAGGAAGCCCTGGAGAG c.3240
G L R G E K | G D Q G I A G F P G S P G E p.1080
. . . . . . g.137502
AAGGGAGAAAAAGGAAGCATTGGGATCCCAGGAATGCCAGGGTCCCCAGGCCTTAAAGGG c.3300
K G E K G S I G I P G M P G S P G L K G p.1100
. . | 39 . . . . g.137658
TCTCCCGGGAGTGTTGGCTATCCAG | GAAGTCCTGGGCTACCTGGAGAAAAAGGTGACAAA c.3360
S P G S V G Y P G | S P G L P G E K G D K p.1120
. . . . | 40 . . g.138165
GGCCTCCCAGGATTGGATGGCATCCCTGGTGTCAAAGGAGAAGCAG | GTCTTCCTGGGACT c.3420
G L P G L D G I P G V K G E A G | L P G T p.1140
. . . . . . g.138225
CCTGGCCCCACAGGCCCAGCTGGCCAGAAAGGGGAGCCAGGCAGTGATGGAATCCCGGGG c.3480
P G P T G P A G Q K G E P G S D G I P G p.1160
. . | 41 . . . . g.139414
TCAGCAGGAGAGAAGGGTGAACCAG | GTCTACCAGGAAGAGGATTCCCAGGGTTTCCAGGG c.3540
S A G E K G E P G | L P G R G F P G F P G p.1180
. | 42 . . . . . g.141461
GCCAAAGGAGACAAAG | GTTCAAAGGGTGAGGTGGGTTTCCCAGGATTAGCCGGGAGCCCA c.3600
A K G D K G | S K G E V G F P G L A G S P p.1200
. . . . . . g.141521
GGAATTCCTGGATCCAAAGGAGAGCAAGGATTCATGGGTCCTCCGGGGCCCCAGGGACAG c.3660
G I P G S K G E Q G F M G P P G P Q G Q p.1220
. . . . . . g.141581
CCGGGGTTACCGGGATCCCCAGGCCATGCCACGGAGGGGCCCAAAGGAGACCGCGGACCT c.3720
P G L P G S P G H A T E G P K G D R G P p.1240
. . | 43 . . . . g.142425
CAGGGCCAGCCTGGCCTGCCAG | GACTTCCGGGACCCATGGGGCCTCCAGGGCTTCCTGGG c.3780
Q G Q P G L P G | L P G P M G P P G L P G p.1260
. . . . . . g.142485
ATTGATGGAGTTAAAGGTGACAAAGGAAATCCAGGCTGGCCAGGAGCACCCGGTGTCCCA c.3840
I D G V K G D K G N P G W P G A P G V P p.1280
. . . | 44 . . . g.144943
GGGCCCAAGGGAGACCCTGGATTCCAGGGCATGCCT | GGTATTGGTGGCTCTCCAGGAATC c.3900
G P K G D P G F Q G M P | G I G G S P G I p.1300
. . . . | 45 . g.145857
ACAGGCTCTAAGGGTGATATGGGGCCTCCAGGAGTTCCAGGATTTCAAG | GTCCAAAAGGT c.3960
T G S K G D M G P P G V P G F Q G | P K G p.1320
. . . . . . g.145917
CTTCCTGGCCTCCAGGGAATTAAAGGTGATCAAGGCGATCAAGGCGTCCCGGGAGCTAAA c.4020
L P G L Q G I K G D Q G D Q G V P G A K p.1340
| 46 . . . . . . g.147218
G | GTCTCCCGGGTCCTCCTGGCCCCCCAGGTCCTTACGACATCATCAAAGGGGAGCCCGGG c.4080
G | L P G P P G P P G P Y D I I K G E P G p.1360
. . . . . . g.147278
CTCCCTGGTCCTGAGGGCCCCCCAGGGCTGAAAGGGCTTCAGGGACTGCCAGGCCCGAAA c.4140
L P G P E G P P G L K G L Q G L P G P K p.1380
. | 47 . . . . . g.148638
GGCCAGCAAG | GTGTTACAGGATTGGTGGGTATACCTGGACCTCCAGGTATTCCTGGGTTT c.4200
G Q Q G | V T G L V G I P G P P G I P G F p.1400
. . . . | 48 . g.149718
GACGGTGCCCCTGGCCAGAAAGGAGAGATGGGACCTGCCGGGCCTACTG | GTCCAAGAGGA c.4260
D G A P G Q K G E M G P A G P T G | P R G p.1420
. . . . . . g.149778
TTTCCAGGTCCACCAGGCCCCGATGGGTTGCCAGGATCCATGGGGCCCCCAGGCACCCCA c.4320
F P G P P G P D G L P G S M G P P G T P p.1440
. . . . . . g.149838
TCTGTTGATCACGGCTTCCTTGTGACCAGGCATAGTCAAACAATAGATGACCCACAGTGT c.4380
S V D H G F L V T R H S Q T I D D P Q C p.1460
. . . . . . g.149898
CCTTCTGGGACCAAAATTCTTTACCACGGGTACTCTTTGCTCTACGTGCAAGGCAATGAA c.4440
P S G T K I L Y H G Y S L L Y V Q G N E p.1480
. . | 49 . . . . g.150818
CGGGCCCATGGCCAGGACTTGG | GCACGGCCGGCAGCTGCCTGCGCAAGTTCAGCACAATG c.4500
R A H G Q D L G | T A G S C L R K F S T M p.1500
. . . . . . g.150878
CCCTTCCTGTTCTGCAATATTAACAACGTGTGCAACTTTGCATCACGAAATGACTACTCG c.4560
P F L F C N I N N V C N F A S R N D Y S p.1520
. . . . . . g.150938
TACTGGCTGTCCACCCCTGAGCCCATGCCCATGTCAATGGCACCCATCACGGGGGAAAAC c.4620
Y W L S T P E P M P M S M A P I T G E N p.1540
. . | 50 . . . . g.156792
ATAAGACCATTTATTAGTAG | GTGTGCTGTGTGTGAGGCGCCTGCCATGGTGATGGCCGTG c.4680
I R P F I S R | C A V C E A P A M V M A V p.1560
. . . . . . g.156852
CACAGCCAGACCATTCAGATCCCACCGTGCCCCAGCGGGTGGTCCTCGCTGTGGATCGGC c.4740
H S Q T I Q I P P C P S G W S S L W I G p.1580
. | 51 . . . . . g.159688
TACTCTTTTGTGATG | CACACCAGCGCTGGTGCAGAAGGCTCTGGCCAAGCCCTGGCGTCC c.4800
Y S F V M | H T S A G A E G S G Q A L A S p.1600
. . . . . . g.159748
CCCGGCTCCTGCCTGGAGGAGTTTAGAAGTGCGCCATTCATCGAGTGTCACGGCCGTGGG c.4860
P G S C L E E F R S A P F I E C H G R G p.1620
. . . . . . g.159808
ACCTGCAATTACTACGCAAACGCTTACAGCTTTTGGCTCGCCACCATAGAGAGGAGCGAG c.4920
T C N Y Y A N A Y S F W L A T I E R S E p.1640
| 52 . . . . . g.161757
ATGTTCAA | GAAGCCTACGCCGTCCACCTTGAAGGCAGGGGAGCTGCGCACGCACGTCAGC c.4980
M F K | K P T P S T L K A G E L R T H V S p.1660
. . . g.161787
CGCTGCCAAGTCTGTATGAGAAGAACATAA c.5010
R C Q V C M R R T X p.1669
. . . . . . g.161847
tgaagcctgactcagctaatgtcacaacatggtgctacttcttcttctttttgttaacag c.*60
. . . . . . g.161907
caacgaaccctagaaatatatcctgtgtacctcactgtccaatatgaaaaccgtaaagtg c.*120
. . . . . . g.161967
ccttataggaatttgcgtaactaacacaccctgcttcattgacctctacttgctgaagga c.*180
. . . . . . g.162027
gaaaaagacagcgataagctttcaatagtggcataccaaatggcacttttgatgaaataa c.*240
. . . . . . g.162087
aatatcaatattttctgcaatccaatgcactgatgtgtgaagtgagaactccatcagaaa c.*300
. . . . . . g.162147
accaaagggtgctaggaggtgtgggtgccttccatactgtttgcccattttcattcttgt c.*360
. . . . . . g.162207
attataattaattttctacccccagagataaatgtttgtttatatcactgtctagctgtt c.*420
. . . . . . g.162267
tcaaaatttaggtcccttggtctgtacaaataatagcaatgtaaaaatggttttttgaac c.*480
. . . . . . g.162327
ctccaaatggaattacagactcagtagccatatcttccaaccccccagtataaatttctg c.*540
. . . . . . g.162387
tctttctgctatgtgtggtactttgcagctgcttttgcagaaatcacaattttcctgtgg c.*600
. . . . . . g.162447
aataaagatggtccaaaaatagtcaaaaattaaatatatatatatattagtaatttatat c.*660
. . . . . . g.162507
agatgtcagcaattaggcagatcaaggtttagtttaacttccactgttaaaataaagctt c.*720
. . . . . . g.162567
acatagttttcttcctttgaaagactgtgctgtcctttaacataggtttttaaagactag c.*780
. . . . . . g.162627
gatattgaatgtgaaacatccgttttcattgttcacttctaaaccaaaaattatgtgttg c.*840
. . . . . . g.162687
ccaaaaccaaacccaggttcatgaatatggtgtctattatagtgaaacatgtactttgag c.*900
. . . . . . g.162747
cttattgtttttattctgtattaaatattttcagggttttaaacactaatcacaaactga c.*960
. . . . . . g.162807
atgacttgacttcaaaagcaacaaccttaaaggccgtcatttcattagtattcctcattc c.*1020
. . . . . . g.162867
tgcatcctggcttgaaaaacagctctgttgaatcacagtatcagtattttcacacgtaag c.*1080
. . . . . . g.162927
cacattcgggccatttccgtggtttctcatgagctgtgttcacagacctcagcagggcat c.*1140
. . . . . . g.162987
cgcatggaccgcaggagggcagattcggaccactaggcctgaaatgacatttcactaaaa c.*1200
. . . . . . g.163047
gtctccaaaacatttctaagactactaaggccttttatgtaatttctttaaatgtgtatt c.*1260
. . . . . . g.163107
tcttaagaattcaaatttgtaataaaactatttgtataaaaattaagcttttattaattt c.*1320
. . . . . . g.163167
gttgctagtattgccacagacgcattaaaagaaacttactgcacaagctgctaataaatt c.*1380
. . g.163187
tgtaagctttgcatacctta c.*1400
(downstream sequence)
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