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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:
CA2289551848
Gene: GATA6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.22181421T= , CM000680.2:g.22181421T=
GRCh38
NC_000018.9:g.19761382T= , CM000680.1:g.19761382T=
GRCh37
NC_000018.8:g.18015380T=
NCBI36
NG_032677.1:g.16979T=
NG_032677.2:g.16985T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000269216.10:c.1303-32T=
MANE Select
ENSP00000269216.3:n.1303-32T=
ENST00000269216.7:c.1303-32T=
ENSP00000269216.3:n.1303-32T=
ENST00000581694.1:c.1303-32T=
ENSP00000462313.1:n.1303-32T=
NM_005257.5:c.1303-32T=
NP_005248.2:n.1303-32T=
NM_005257.6:c.1303-32T=
MANE Select
NP_005248.2:n.1303-32T=
Search 100 bp 5'
Search 100 bp 3'