Linked Data
dbSNP Id:
rs1420503447
gnomAD v2:
12-105583685-AAC-A
gnomAD v3:
12-105189907-AAC-A
gnomAD v4:
12-105189907-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105189909_105189910del , CM000674.2:g.105189909_105189910del | GRCh38 |
| NC_000012.11:g.105583687_105583688del , CM000674.1:g.105583687_105583688del | GRCh37 |
| NC_000012.10:g.104107817_104107818del | NCBI36 |
| NG_030419.1:g.51322_51323del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258530.8:c.1406+82_1407-84del MANE Select | ENSP00000258530.3:n.1406+82_1407-84del | |
| ENST00000258530.7:c.1406+82_1407-84del | ENSP00000258530.3:n.1406+82_1407-84del | |
| ENST00000539978.6:c.1277+82_1278-84del | ENSP00000444472.2:n.1277+82_1278-84del | |
| ENST00000547439.5:c.*691+82_*692-84del | ENSP00000449410.1:n.*691+82_*692-84del | |
| ENST00000547809.5:n.1416+82_1417-84del | ||
| ENST00000551662.5:c.1424+82_1425-84del | ENSP00000446917.1:n.1424+82_1425-84del | |
| ENST00000552945.1:n.182-20_182-19del | ||
| ENST00000553109.1:c.50+82_51-84del | ENSP00000446510.1:n.50+82_51-84del | |
| NM_001251904.1:c.1424+82_1425-84del | NP_001238833.1:n.1424+82_1425-84del | |
| NM_001251905.1:c.1277+82_1278-84del | NP_001238834.1:n.1277+82_1278-84del | |
| NM_018171.3:c.1406+82_1407-84del | NP_060641.2:n.1406+82_1407-84del | |
| XM_006719472.1:c.1424+82_1425-84del | XP_006719535.1:n.1424+82_1425-84del | |
| XM_011538530.1:c.1385+82_1386-84del | XP_011536832.1:n.1385+82_1386-84del | |
| XM_011538531.1:c.1295+82_1296-84del | XP_011536833.1:n.1295+82_1296-84del | |
| XM_011538532.1:c.1295+82_1296-84del | XP_011536834.1:n.1295+82_1296-84del | |
| XM_011538530.3:c.1385+82_1386-84del | XP_011536832.1:n.1385+82_1386-84del | |
| XM_011538531.3:c.1295+82_1296-84del | XP_011536833.1:n.1295+82_1296-84del | |
| XM_011538532.3:c.1295+82_1296-84del | XP_011536834.1:n.1295+82_1296-84del | |
| XM_017019551.2:c.1367+82_1368-84del | XP_016875040.1:n.1367+82_1368-84del | |
| XM_017019552.2:c.1277+82_1278-84del | XP_016875041.1:n.1277+82_1278-84del | |
| XM_017019553.2:c.1277+82_1278-84del | XP_016875042.1:n.1277+82_1278-84del | |
| XM_017019554.1:c.1406+82_1407-84del | XP_016875043.1:n.1406+82_1407-84del | |
| XR_001748795.1:n.1586+82_1587-84del | ||
| XR_001748796.1:n.1568+82_1569-84del | ||
| NM_018171.4:c.1406+82_1407-84del | NP_060641.2:n.1406+82_1407-84del | |
| NM_018171.5:c.1406+82_1407-84del MANE Select | NP_060641.2:n.1406+82_1407-84del | |
| NM_001251904.2:c.1424+82_1425-84del | NP_001238833.1:n.1424+82_1425-84del | |
| NM_001251905.2:c.1277+82_1278-84del | NP_001238834.1:n.1277+82_1278-84del |