Canonical Allele Identifier: CA693572522

Gene:

Linked Data

• dbSNP Id: rs1293155193
• gnomAD v3: 12-93293112-T-TG
• gnomAD v4: 12-93293112-T-TG
• MyVariant Identifiers: chr12:g.93686888_93686889insG (hg19) ; chr12:g.93293112_93293113insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293113dup , CM000674.2:g.93293113dup	GRCh38
NC_000012.11:g.93686889dup , CM000674.1:g.93686889dup	GRCh37
NC_000012.10:g.92211020dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34914dup