Linked Data
dbSNP Id:
rs1366162011
gnomAD v2:
11-113286492-CAA-C
gnomAD v3:
11-113415770-CAA-C
gnomAD v4:
11-113415770-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113415772_113415773del , CM000673.2:g.113415772_113415773del | GRCh38 |
| NC_000011.9:g.113286494_113286495del , CM000673.1:g.113286494_113286495del | GRCh37 |
| NC_000011.8:g.112791704_112791705del | NCBI36 |
| NG_008841.1:g.64508_64509del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.533-161_533-160del MANE Select | ENSP00000354859.3:n.533-161_533-160del | |
| ENST00000346454.7:c.533-161_533-160del | ENSP00000278597.5:n.533-161_533-160del | |
| ENST00000362072.7:c.533-161_533-160del | ENSP00000354859.3:n.533-161_533-160del | |
| ENST00000535984.1:n.252-161_252-160del | ||
| ENST00000538967.5:c.533-161_533-160del | ENSP00000438215.1:n.533-161_533-160del | |
| ENST00000539420.1:n.229-161_229-160del | ||
| ENST00000540600.5:n.598-161_598-160del | ||
| ENST00000542968.5:c.533-161_533-160del | ENSP00000442172.1:n.533-161_533-160del | |
| ENST00000544518.5:c.530-161_530-160del | ENSP00000441068.1:n.530-161_530-160del | |
| NM_000795.3:c.533-161_533-160del | NP_000786.1:n.533-161_533-160del | |
| NM_016574.3:c.533-161_533-160del | NP_057658.2:n.533-161_533-160del | |
| XM_017017296.2:c.533-161_533-160del | XP_016872785.1:n.533-161_533-160del | |
| NM_000795.4:c.533-161_533-160del MANE Select | NP_000786.1:n.533-161_533-160del | |
| NM_016574.4:c.533-161_533-160del | NP_057658.2:n.533-161_533-160del |