Linked Data
gnomAD v3:
13-23341780-C-CTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
13-23341780-C-CTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23341783_23341806dup , CM000675.2:g.23341783_23341806dup | GRCh38 |
| NC_000013.10:g.23915922_23915945dup , CM000675.1:g.23915922_23915945dup | GRCh37 |
| NC_000013.9:g.22813922_22813945dup | NCBI36 |
| NG_012342.1:g.96899_96922dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+11981_2185+12004dup | ENSP00000508399.1:n.2185+11981_2185+12004dup | |
| ENST00000682944.1:c.2213-114_2213-91dup | ENSP00000507173.1:n.2213-114_2213-91dup | |
| ENST00000683210.1:c.2185+11981_2185+12004dup | ENSP00000506739.1:n.2185+11981_2185+12004dup | |
| ENST00000683270.1:c.2177-114_2177-91dup | ENSP00000507624.1:n.2177-114_2177-91dup | |
| ENST00000683367.1:c.2176+11981_2176+12004dup | ENSP00000507780.1:n.2176+11981_2176+12004dup | |
| ENST00000683489.1:c.2186-114_2186-91dup | ENSP00000508403.1:n.2186-114_2186-91dup | |
| ENST00000683680.1:c.2213-114_2213-91dup | ENSP00000507223.1:n.2213-114_2213-91dup | |
| ENST00000684163.1:c.2203+5007_2203+5030dup | ENSP00000508262.1:n.2203+5007_2203+5030dup | |
| ENST00000684196.1:n.4542+11981_4542+12004dup | ||
| ENST00000684325.1:c.2185+11981_2185+12004dup | ENSP00000508121.1:n.2185+11981_2185+12004dup | |
| ENST00000684385.1:c.2220+5007_2220+5030dup | ENSP00000507855.1:n.2220+5007_2220+5030dup | |
| ENST00000684497.1:c.2185+11981_2185+12004dup | ENSP00000507057.1:n.2185+11981_2185+12004dup | |
| ENST00000382292.9:c.2186-114_2186-91dup MANE Select | ENSP00000371729.3:n.2186-114_2186-91dup | |
| ENST00000423156.2:c.2185+11981_2185+12004dup | ENSP00000390925.2:n.2185+11981_2185+12004dup | |
| ENST00000455470.6:c.2186-114_2186-91dup | ENSP00000406565.2:n.2186-114_2186-91dup | |
| ENST00000382292.7:c.2186-114_2186-91dup | ENSP00000371729.3:n.2186-114_2186-91dup | |
| ENST00000382298.7:c.2186-114_2186-91dup | ENSP00000371735.3:n.2186-114_2186-91dup | |
| ENST00000402364.1:c.-65-114_-65-91dup | ENSP00000385844.1:n.-65-114_-65-91dup | |
| ENST00000423156.1:c.1057+11981_1057+12004dup | ENSP00000390925.1:n.1057+11981_1057+12004dup | |
| ENST00000455470.5:c.1884-114_1884-91dup | ||
| NM_001278055.1:c.1745-114_1745-91dup | NP_001264984.1:n.1745-114_1745-91dup | |
| NM_014363.5:c.2186-114_2186-91dup | NP_055178.3:n.2186-114_2186-91dup | |
| XM_005266338.1:c.2213-114_2213-91dup | XP_005266395.1:n.2213-114_2213-91dup | |
| XM_011535038.1:c.2237-114_2237-91dup | XP_011533340.1:n.2237-114_2237-91dup | |
| XM_011535039.1:c.2204-114_2204-91dup | XP_011533341.1:n.2204-114_2204-91dup | |
| XM_005266338.2:c.2213-114_2213-91dup | XP_005266395.1:n.2213-114_2213-91dup | |
| XM_011535039.2:c.2204-114_2204-91dup | XP_011533341.1:n.2204-114_2204-91dup | |
| XM_017020539.1:c.2177-114_2177-91dup | XP_016876028.1:n.2177-114_2177-91dup | |
| XM_024449337.1:c.2213-114_2213-91dup | XP_024305105.1:n.2213-114_2213-91dup | |
| NM_014363.6:c.2186-114_2186-91dup MANE Select | NP_055178.3:n.2186-114_2186-91dup | |
| NM_001278055.2:c.1745-114_1745-91dup | NP_001264984.1:n.1745-114_1745-91dup |