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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:
CA2766242471
Gene: DDX3Y
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12904562del , CM000686.2:g.12904562del
GRCh38
NC_000024.9:g.15016473del , CM000686.1:g.15016473del
GRCh37
NC_000024.8:g.13525867del
NCBI36
NG_012831.1:g.5455del
Transcript Alleles
HGVS
Amino-acid change
ENST00000360160.8:c.-3+148del
ENSP00000353284.4:n.-3+148del
ENST00000454054.5:c.-80+148del
ENSP00000398953.1:n.-80+148del
NM_001122665.2:c.-3+148del
NP_001116137.1:n.-3+148del
NM_001122665.3:c.-3+148del
NP_001116137.1:n.-3+148del
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