Linked Data
dbSNP Id:
rs34828900
gnomAD v2:
10-73769384-TG-T
gnomAD v3:
10-72009626-TG-T
gnomAD v4:
10-72009626-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72009631del , CM000672.2:g.72009631del | GRCh38 |
| NC_000010.10:g.73769389del , CM000672.1:g.73769389del | GRCh37 |
| NC_000010.9:g.73439395del | NCBI36 |
| NG_012635.1:g.50270del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.*1160del MANE Select | ENSP00000362207.4:n.*1160del | |
| ENST00000373115.4:c.*1160del | ENSP00000362207.4:n.*1160del | |
| NM_004273.4:c.*1160del | NP_004264.2:n.*1160del | |
| XM_006718075.2:c.*1160del | XP_006718138.1:n.*1160del | |
| XM_011540369.1:c.*1160del | XP_011538671.1:n.*1160del | |
| XM_006718075.4:c.*1160del | XP_006718138.1:n.*1160del | |
| XM_011540369.2:c.*1160del | XP_011538671.1:n.*1160del | |
| NM_004273.5:c.*1160del MANE Select | NP_004264.2:n.*1160del |