Canonical Allele Identifier: CA817769238

Gene:

Linked Data

• dbSNP Id: rs1253020552
• gnomAD v3: 6-117450153-C-CTT
• gnomAD v4: 6-117450153-C-CTT
• MyVariant Identifiers: chr6:g.117771316_117771317insTT (hg19) ; chr6:g.117450153_117450154insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450154_117450155dup , CM000668.2:g.117450154_117450155dup	GRCh38
NC_000006.11:g.117771317_117771318dup , CM000668.1:g.117771317_117771318dup	GRCh37
NC_000006.10:g.117878010_117878011dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116699_547+116700dup	ENSP00000487717.1:n.547+116699_547+116700...