Canonical Allele Identifier: CA614218582

Gene:

Linked Data

• dbSNP Id: rs1161986646
• gnomAD v2: 14-52884383-T-TC
• gnomAD v3: 14-52417665-T-TC
• gnomAD v4: 14-52417665-T-TC
• MyVariant Identifiers: chr14:g.52884383_52884384insC (hg19) ; chr14:g.52417665_52417666insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417669dup , CM000676.2:g.52417669dup	GRCh38
NC_000014.8:g.52884387dup , CM000676.1:g.52884387dup	GRCh37
NC_000014.7:g.51954137dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3037dup