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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
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Canonical Allele Identifier:
CA590937557
Gene: GAPVD1
HGNC
NCBI
HSPA5-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs145708980
gnomAD v2:
9-128003993-A-ACC
MyVariant Identifiers:
chr9:g.128003993_128003994insCC (hg19)
chr9:g.125241714_125241715insCC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.125241719_125241720dup , CM000671.2:g.125241719_125241720dup
GRCh38
NC_000009.11:g.128003998_128003999dup , CM000671.1:g.128003998_128003999dup
GRCh37
NC_000009.10:g.127043819_127043820dup
NCBI36
NG_027761.1:g.4672_4673dup
Transcript Alleles
HGVS
Amino-acid change
XM_011518501.1:c.-686_-685dup
(GAPVD1)
XP_011516803.1:n.-686_-685dup
XM_011518503.1:c.-992_-991dup
(GAPVD1)
XP_011516805.1:n.-992_-991dup
XM_011518504.1:c.-637_-636dup
(GAPVD1)
XP_011516806.1:n.-637_-636dup
XR_001746927.1:n.57_58dup
(HSPA5-DT)
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