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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:
CA534167385
Gene: VAMP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1458048233
gnomAD v2:
2-85816337-G-GC
gnomAD v3:
2-85589214-G-GC
gnomAD v4:
2-85589214-G-GC
MyVariant Identifiers:
chr2:g.85816337_85816338insC (hg19)
chr2:g.85589214_85589215insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.85589217dup , CM000664.2:g.85589217dup
GRCh38
NC_000002.11:g.85816340dup , CM000664.1:g.85816340dup
GRCh37
NC_000002.10:g.85669851dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000306384.5:c.4-2508dup
MANE Select
ENSP00000305647.4:n.4-2508dup
ENST00000306384.4:c.4-2508dup
ENSP00000305647.4:n.4-2508dup
NM_006634.2:c.4-2508dup
NP_006625.1:n.4-2508dup
NM_006634.3:c.4-2508dup
MANE Select
NP_006625.1:n.4-2508dup
Search 100 bp 5'
Search 100 bp 3'