Linked Data
dbSNP Id:
rs778206385
ExAC:
4:187178541 AAC / A
gnomAD v2:
4-187178541-AAC-A
gnomAD v4:
4-186257387-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186257391_186257392del , CM000666.2:g.186257391_186257392del | GRCh38 |
| NC_000004.11:g.187178545_187178546del , CM000666.1:g.187178545_187178546del | GRCh37 |
| NC_000004.10:g.187415539_187415540del | NCBI36 |
| NG_012095.2:g.53413_53414del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264690.11:c.1725+26_1725+27del MANE Select | ENSP00000264690.6:n.1725+26_1725+27del | |
| ENST00000264690.10:c.1725+26_1725+27del | ENSP00000264690.6:n.1725+26_1725+27del | |
| ENST00000511406.5:n.1786+26_1786+27del | ||
| ENST00000511608.5:c.1868+26_1868+27del | ||
| ENST00000513864.2:c.1472-630_1472-629del | ENSP00000424469.2:n.1472-630_1472-629del | |
| NM_000892.3:c.1725+26_1725+27del | NP_000883.2:n.1725+26_1725+27del | |
| XM_011531930.1:c.1758+26_1758+27del | XP_011530232.1:n.1758+26_1758+27del | |
| XM_011531931.1:c.1758+26_1758+27del | XP_011530233.1:n.1758+26_1758+27del | |
| XM_011531932.1:c.1644+26_1644+27del | XP_011530234.1:n.1644+26_1644+27del | |
| XM_011531933.1:c.1644+26_1644+27del | XP_011530235.1:n.1644+26_1644+27del | |
| XM_011531934.1:c.1119+26_1119+27del | XP_011530236.1:n.1119+26_1119+27del | |
| NM_000892.4:c.1725+26_1725+27del | NP_000883.2:n.1725+26_1725+27del | |
| NM_001318394.1:c.1472-630_1472-629del | NP_001305323.1:n.1472-630_1472-629del | |
| NM_001318396.1:c.1119+26_1119+27del | NP_001305325.1:n.1119+26_1119+27del | |
| XM_011531930.2:c.1758+26_1758+27del | XP_011530232.1:n.1758+26_1758+27del | |
| XM_017008181.1:c.1758+26_1758+27del | XP_016863670.1:n.1758+26_1758+27del | |
| XM_017008182.1:c.1619-630_1619-629del | XP_016863671.1:n.1619-630_1619-629del | |
| XM_017008183.1:c.1586-630_1586-629del | XP_016863672.1:n.1586-630_1586-629del | |
| XM_017008184.1:c.1119+26_1119+27del | XP_016863673.1:n.1119+26_1119+27del | |
| NM_000892.5:c.1725+26_1725+27del MANE Select | NP_000883.2:n.1725+26_1725+27del | |
| NM_001318394.2:c.1472-630_1472-629del | NP_001305323.1:n.1472-630_1472-629del | |
| NM_001318396.2:c.1119+26_1119+27del | NP_001305325.1:n.1119+26_1119+27del |