Canonical Allele Identifier: CA1062621915

Gene:

Linked Data

• gnomAD v3: 4-54072301-C-CAAAA
• gnomAD v4: 4-54072301-C-CAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072312_54072315dup , CM000666.2:g.54072312_54072315dup	GRCh38
NC_000004.11:g.54938479_54938482dup , CM000666.1:g.54938479_54938482dup	GRCh37
NC_000004.10:g.54633236_54633239dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-202613_1018-202610dup	ENSP00000423325.1:n.1018-202613_1018-2026...