Canonical Allele Identifier: CA857362212

Gene:

Linked Data

• dbSNP Id: rs1172351059
• gnomAD v3: 8-97269686-A-AT
• gnomAD v4: 8-97269686-A-AT
• MyVariant Identifiers: chr8:g.98281914_98281915insT (hg19) ; chr8:g.97269686_97269687insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269687dup , CM000670.2:g.97269687dup	GRCh38
NC_000008.10:g.98281915dup , CM000670.1:g.98281915dup	GRCh37
NC_000008.9:g.98351091dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149383dup