Canonical Allele Identifier: CA1062643767

Gene:

Linked Data

• dbSNP Id: rs1720485984
• gnomAD v3: 4-54228517-AC-A
• gnomAD v4: 4-54228517-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228518del , CM000666.2:g.54228518del	GRCh38
NC_000004.11:g.55094685del , CM000666.1:g.55094685del	GRCh37
NC_000004.10:g.54789442del	NCBI36
NG_009250.1:g.4422del , LRG_309:g.4422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-46407del	ENSP00000423325.1:n.1018-46407del