Linked Data
dbSNP Id:
rs111663673
gnomAD v2:
1-10436892-AAC-A
gnomAD v3:
1-10376834-AAC-A
gnomAD v4:
1-10376834-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10376866_10376867del , CM000663.2:g.10376866_10376867del | GRCh38 |
| NC_000001.10:g.10436924_10436925del , CM000663.1:g.10436924_10436925del | GRCh37 |
| NC_000001.9:g.10359511_10359512del | NCBI36 |
| NG_008069.1:g.171161_171162del , LRG_252:g.171161_171162del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.*279_*280del | ENSP00000512668.1:n.*279_*280del | |
| ENST00000696503.1:c.*279_*280del | ENSP00000512669.1:n.*279_*280del | |
| ENST00000696504.1:c.*279_*280del | ENSP00000512670.1:n.*279_*280del | |
| ENST00000676179.1:c.*279_*280del MANE Select | ENSP00000502065.1:n.*279_*280del | |
| ENST00000263934.10:c.*279_*280del | ENSP00000263934.6:n.*279_*280del | |
| ENST00000377081.5:c.5409-1473_5409-1472del | ENSP00000366284.1:n.5409-1473_5409-1472de... | |
| ENST00000377086.5:c.*279_*280del | ENSP00000366290.1:n.*279_*280del | |
| ENST00000620295.2:c.5367-1473_5367-1472del | ENSP00000478500.1:n.5367-1473_5367-1472de... | |
| ENST00000622724.3:c.5331-1473_5331-1472del | ENSP00000480063.1:n.5331-1473_5331-1472de... | |
| ENST00000635499.1:c.1775_1776del | ||
| NM_015074.3:c.*279_*280del , LRG_252t1:c.*279_*280del | NP_055889.2:n.*279_*280del | |
| NM_001365951.1:c.*279_*280del | NP_001352880.1:n.*279_*280del | |
| NM_001365952.1:c.*279_*280del | NP_001352881.1:n.*279_*280del | |
| NM_001365951.3:c.*279_*280del MANE Select | NP_001352880.1:n.*279_*280del |