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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:
CA1266841802
Gene: VAMP5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.85589193_85589195delinsAGT , CM000664.2:g.85589193_85589195delinsAGT
GRCh38
NC_000002.11:g.85816316_85816318delinsAGT , CM000664.1:g.85816316_85816318delinsAGT
GRCh37
NC_000002.10:g.85669827_85669829delinsAGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000306384.5:c.4-2532_4-2530delinsAGT
MANE Select
ENSP00000305647.4:n.4-2532_4-2530delinsAG...
ENST00000306384.4:c.4-2532_4-2530delinsAGT
ENSP00000305647.4:n.4-2532_4-2530delinsAG...
NM_006634.2:c.4-2532_4-2530delinsAGT
NP_006625.1:n.4-2532_4-2530delinsAGT
NM_006634.3:c.4-2532_4-2530delinsAGT
MANE Select
NP_006625.1:n.4-2532_4-2530delinsAGT
Search 100 bp 5'
Search 100 bp 3'