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: CA1071269419

Gene: HAFML HGNC NCBI

Linked Data

dbSNP Id: rs1733733620

gnomAD v3: 4-176666846-GT-G

gnomAD v4: 4-176666846-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.176666847del , CM000666.2:g.176666847del	GRCh38
NC_000004.11:g.177587998del , CM000666.1:g.177587998del	GRCh37
NC_000004.10:g.177824992del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939498.1:n.121-2774del
XR_939499.1:n.121-2774del
XR_939498.2:n.208-2774del
XR_939499.2:n.204-2774del

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