×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA918555101
Gene: GAPVD1
HGNC
NCBI
HSPA5-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs145708980
gnomAD v3:
9-125241714-AC-A
gnomAD v4:
9-125241714-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.125241720del , CM000671.2:g.125241720del
GRCh38
NC_000009.11:g.128003999del , CM000671.1:g.128003999del
GRCh37
NC_000009.10:g.127043820del
NCBI36
NG_027761.1:g.4673del
Transcript Alleles
HGVS
Amino-acid change
XM_011518501.1:c.-685del
(GAPVD1)
XP_011516803.1:n.-685del
XM_011518503.1:c.-991del
(GAPVD1)
XP_011516805.1:n.-991del
XM_011518504.1:c.-636del
(GAPVD1)
XP_011516806.1:n.-636del
XR_001746927.1:n.58del
(HSPA5-DT)
Search 100 bp 5'
Search 100 bp 3'