Linked Data
gnomAD v3:
13-23341780-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
13-23341780-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23341806_23341807insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000675.2:g.23341806_23341807insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000013.10:g.23915945_23915946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000675.1:g.23915945_23915946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000013.9:g.22813945_22813946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_012342.1:g.96922_96923insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508399.1:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA... | |
| ENST00000682944.1:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507173.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683210.1:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506739.1:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA... | |
| ENST00000683270.1:c.2177-91_2177-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507624.1:n.2177-91_2177-90insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683367.1:c.2176+12004_2176+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507780.1:n.2176+12004_2176+12005insAAAAAAAAAAAAAAAAA... | |
| ENST00000683489.1:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508403.1:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683680.1:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507223.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684163.1:c.2203+5030_2203+5031insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508262.1:n.2203+5030_2203+5031insAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684196.1:n.4542+12004_4542+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000684325.1:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508121.1:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA... | |
| ENST00000684385.1:c.2220+5030_2220+5031insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507855.1:n.2220+5030_2220+5031insAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684497.1:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507057.1:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA... | |
| ENST00000382292.9:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000371729.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000423156.2:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000390925.2:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA... | |
| ENST00000455470.6:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000406565.2:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000382292.7:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000371729.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000382298.7:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000371735.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000402364.1:c.-65-91_-65-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000385844.1:n.-65-91_-65-90insAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000423156.1:c.1057+12004_1057+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000390925.1:n.1057+12004_1057+12005insAAAAAAAAAAAAAAAAA... | |
| ENST00000455470.5:c.1884-91_1884-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_001278055.1:c.1745-91_1745-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001264984.1:n.1745-91_1745-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_014363.5:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_055178.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005266338.1:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005266395.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011535038.1:c.2237-91_2237-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011533340.1:n.2237-91_2237-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011535039.1:c.2204-91_2204-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011533341.1:n.2204-91_2204-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005266338.2:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005266395.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011535039.2:c.2204-91_2204-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011533341.1:n.2204-91_2204-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017020539.1:c.2177-91_2177-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016876028.1:n.2177-91_2177-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024449337.1:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024305105.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_014363.6:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_055178.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001278055.2:c.1745-91_1745-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001264984.1:n.1745-91_1745-90insAAAAAAAAAAAAAAAAAAAAAAAAAA... |