Canonical Allele Identifier: CA556731639

Gene: HAFML

Linked Data

• dbSNP Id: rs1345521293
• gnomAD v2: 4-177587624-CCAAA-C
• gnomAD v3: 4-176666473-CCAAA-C
• gnomAD v4: 4-176666473-CCAAA-C
• MyVariant Identifiers: chr4:g.177587625_177587628del (hg19) ; chr4:g.177587627_177587631delinsG (hg19) ; chr4:g.176666474_176666477del (hg38) ; chr4:g.176666476_176666480delinsG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.176666476_176666479del , CM000666.2:g.176666476_176666479del	GRCh38
NC_000004.11:g.177587627_177587630del , CM000666.1:g.177587627_177587630del	GRCh37
NC_000004.10:g.177824621_177824624del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939498.1:n.121-3145_121-3142del
XR_939499.1:n.121-3145_121-3142del
XR_939498.2:n.208-3145_208-3142del
XR_939499.2:n.204-3145_204-3142del