Canonical Allele Identifier: CA185745491

Gene: CASC8

Linked Data

• dbSNP Id: rs753837702
• gnomAD v2: 8-128486007-A-ATGGTT
• gnomAD v3: 8-127473762-A-ATGGTT
• gnomAD v4: 8-127473762-A-ATGGTT
• MyVariant Identifiers: chr8:g.128486012_128486013insTGGTT (hg19) ; chr8:g.128486007_128486008insTGGTT (hg19) ; chr8:g.127473767_127473768insTGGTT (hg38) ; chr8:g.127473762_127473763insTGGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127473779_127473783dup , CM000670.2:g.127473779_127473783dup	GRCh38
NC_000008.10:g.128486024_128486028dup , CM000670.1:g.128486024_128486028dup	GRCh37
NC_000008.9:g.128555206_128555210dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_024393.1:n.1041+5316_1041+5320dup
NR_117100.1:n.1041+5316_1041+5320dup