Canonical Allele Identifier: CA800736735

Gene:

Linked Data

• dbSNP Id: rs987507819
• gnomAD v3: 4-99474190-A-AT
• gnomAD v4: 4-99474190-A-AT
• MyVariant Identifiers: chr4:g.100395347_100395348insT (hg19) ; chr4:g.99474190_99474191insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474197dup , CM000666.2:g.99474197dup	GRCh38
NC_000004.11:g.100395354dup , CM000666.1:g.100395354dup	GRCh37
NC_000004.10:g.100614377dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2329dup