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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:
CA2584851417
Gene: ATCAY
HGNC
NCBI
Linked Data
gnomAD v4:
19-3926025-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.3926026del , CM000681.2:g.3926026del
GRCh38
NC_000019.9:g.3926024del , CM000681.1:g.3926024del
GRCh37
NC_000019.8:g.3877024del
NCBI36
NG_012638.1:g.50407del
Transcript Alleles
HGVS
Amino-acid change
ENST00000450849.7:c.*1434del
MANE Select
ENSP00000390941.1:n.*1434del
ENST00000450849.6:c.*1434del
ENSP00000390941.1:n.*1434del
ENST00000600960.1:c.2614del
ENSP00000470842.1:n.2614del
ENST00000601323.1:n.440-232del
NM_033064.4:c.*1434del
NP_149053.1:n.*1434del
NM_033064.5:c.*1434del
MANE Select
NP_149053.1:n.*1434del
Search 100 bp 5'
Search 100 bp 3'