Linked Data
dbSNP Id:
rs1388441853
gnomAD v2:
9-117558654-TC-T
gnomAD v3:
9-114796374-TC-T
gnomAD v4:
9-114796374-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114796376del , CM000671.2:g.114796376del | GRCh38 |
| NC_000009.11:g.117558656del , CM000671.1:g.117558656del | GRCh37 |
| NC_000009.10:g.116598477del | NCBI36 |
| NG_011488.2:g.14754del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374045.5:c.211-2807del MANE Select | ENSP00000363157.3:n.211-2807del | |
| ENST00000374045.4:c.211-2807del | ENSP00000363157.3:n.211-2807del | |
| NM_005118.3:c.211-2807del | NP_005109.2:n.211-2807del | |
| NM_005118.4:c.211-2807del MANE Select | NP_005109.2:n.211-2807del |