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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:
CA1266841796
Gene: VAMP5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.85589190_85589192delinsGAC , CM000664.2:g.85589190_85589192delinsGAC
GRCh38
NC_000002.11:g.85816313_85816315delinsGAC , CM000664.1:g.85816313_85816315delinsGAC
GRCh37
NC_000002.10:g.85669824_85669826delinsGAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000306384.5:c.4-2535_4-2533delinsGAC
MANE Select
ENSP00000305647.4:n.4-2535_4-2533delinsGA...
ENST00000306384.4:c.4-2535_4-2533delinsGAC
ENSP00000305647.4:n.4-2535_4-2533delinsGA...
NM_006634.2:c.4-2535_4-2533delinsGAC
NP_006625.1:n.4-2535_4-2533delinsGAC
NM_006634.3:c.4-2535_4-2533delinsGAC
MANE Select
NP_006625.1:n.4-2535_4-2533delinsGAC
Search 100 bp 5'
Search 100 bp 3'