Allele Registry

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.

Canonical Allele Identifier: CA1081186979

Gene:

Linked Data

dbSNP Id: rs1749025014

gnomAD v3: 5-126002791-GGA-G

gnomAD v4: 5-126002791-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002800_126002801del , CM000667.2:g.126002800_126002801del	GRCh38
NC_000005.9:g.125338493_125338494del , CM000667.1:g.125338493_125338494del	GRCh37
NC_000005.8:g.125366392_125366393del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948737.1:n.565+3547_565+3548del
XR_948738.1:n.497+5747_497+5748del

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