Canonical Allele Identifier: CA551536782

Gene:

Linked Data

• dbSNP Id: rs1176250260
• gnomAD v2: 4-54938444-GGGC-G
• gnomAD v3: 4-54072277-GGGC-G
• gnomAD v4: 4-54072277-GGGC-G
• MyVariant Identifiers: chr4:g.54938445_54938447del (hg19) ; chr4:g.54072278_54072280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072279_54072281del , CM000666.2:g.54072279_54072281del	GRCh38
NC_000004.11:g.54938446_54938448del , CM000666.1:g.54938446_54938448del	GRCh37
NC_000004.10:g.54633203_54633205del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-202646_1018-202644del	ENSP00000423325.1:n.1018-202646_1018-2026...