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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:
CA1266841871
Gene: VAMP5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.85589290_85589291delinsTA , CM000664.2:g.85589290_85589291delinsTA
GRCh38
NC_000002.11:g.85816413_85816414delinsTA , CM000664.1:g.85816413_85816414delinsTA
GRCh37
NC_000002.10:g.85669924_85669925delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000306384.5:c.4-2435_4-2434delinsTA
MANE Select
ENSP00000305647.4:n.4-2435_4-2434delinsTA...
ENST00000306384.4:c.4-2435_4-2434delinsTA
ENSP00000305647.4:n.4-2435_4-2434delinsTA...
NM_006634.2:c.4-2435_4-2434delinsTA
NP_006625.1:n.4-2435_4-2434delinsTA
NM_006634.3:c.4-2435_4-2434delinsTA
MANE Select
NP_006625.1:n.4-2435_4-2434delinsTA
Search 100 bp 5'
Search 100 bp 3'