Linked Data
dbSNP Id:
rs762225531
ExAC:
1:113456544 CCAT / C
gnomAD v2:
1-113456544-CCAT-C
gnomAD v4:
1-112913922-CCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112913924_112913926del , CM000663.2:g.112913924_112913926del | GRCh38 |
| NC_000001.10:g.113456546_113456548del , CM000663.1:g.113456546_113456548del | GRCh37 |
| NC_000001.9:g.113258069_113258071del | NCBI36 |
| NG_015880.2:g.47004_47006del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369626.8:c.1469_1471del MANE Select | ENSP00000358640.4:p.Asp490del | |
| ENST00000429288.2:c.1469_1471del | ENSP00000397106.2:p.Asp490del | |
| ENST00000443580.6:c.1469_1471del | ENSP00000399104.2:p.Asp490del | |
| ENST00000458229.6:c.1469_1471del | ENSP00000416167.2:p.Asp490del | |
| ENST00000679803.1:c.1469_1471del | ENSP00000505879.1:p.Asp490del | |
| ENST00000369626.7:c.1469_1471del | ENSP00000358640.3:p.Asp490del | |
| ENST00000538576.5:c.1469_1471del | ENSP00000441065.1:p.Asp490del | |
| NM_001166496.1:c.1469_1471del | NP_001159968.1:p.Asp490del | |
| NM_003051.3:c.1469_1471del | NP_003042.3:p.Asp490del | |
| XM_011542026.1:c.1469_1471del | XP_011540328.1:p.Asp490del | |
| XM_011542027.1:c.1469_1471del | XP_011540329.1:p.Asp490del | |
| NM_003051.4:c.1469_1471del MANE Select | NP_003042.3:p.Asp490del | |
| NM_001166496.2:c.1469_1471del | NP_001159968.1:p.Asp490del |