Linked Data
dbSNP Id:
rs760215518
gnomAD v2:
17-27822797-TCCTTATGCAGCTTGCCCTG-T
gnomAD v4:
17-29495779-TCCTTATGCAGCTTGCCCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29495782_29495800del , CM000679.2:g.29495782_29495800del | GRCh38 |
| NC_000017.10:g.27822800_27822818del , CM000679.1:g.27822800_27822818del | GRCh37 |
| NC_000017.9:g.24846926_24846944del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.999+55_999+73del MANE Select | ENSP00000261716.3:n.999+55_999+73del | |
| ENST00000261716.7:c.999+55_999+73del | ENSP00000261716.3:n.999+55_999+73del | |
| ENST00000536202.1:c.999+55_999+73del | ENSP00000438819.1:n.999+55_999+73del | |
| ENST00000577583.1:n.847+55_847+73del | ||
| NM_020791.2:c.999+55_999+73del | NP_065842.1:n.999+55_999+73del | |
| NM_025142.1:c.999+55_999+73del | NP_079418.1:n.999+55_999+73del | |
| XM_011525060.1:c.999+55_999+73del | XP_011523362.1:n.999+55_999+73del | |
| XM_011525060.2:c.999+55_999+73del | XP_011523362.1:n.999+55_999+73del | |
| NM_020791.4:c.999+55_999+73del MANE Select | NP_065842.1:n.999+55_999+73del |