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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
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Canonical Allele Identifier:
CA1878809542
Gene: GAPVD1
HGNC
NCBI
HSPA5-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.125241714_125241715delinsAC , CM000671.2:g.125241714_125241715delinsAC
GRCh38
NC_000009.11:g.128003993_128003994delinsAC , CM000671.1:g.128003993_128003994delinsAC
GRCh37
NC_000009.10:g.127043814_127043815delinsAC
NCBI36
NG_027761.1:g.4673_4674delinsGT
Transcript Alleles
HGVS
Amino-acid change
XM_011518501.1:c.-691_-690delinsAC
(GAPVD1)
XP_011516803.1:n.-691_-690delinsAC
XM_011518503.1:c.-997_-996delinsAC
(GAPVD1)
XP_011516805.1:n.-997_-996delinsAC
XM_011518504.1:c.-642_-641delinsAC
(GAPVD1)
XP_011516806.1:n.-642_-641delinsAC
XR_001746927.1:n.52_53delinsAC
(HSPA5-DT)
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