Canonical Allele Identifier: CA185745479

Gene: CASC8

Linked Data

• dbSNP Id: rs199991599
• gnomAD v2: 8-128485926-AG-A
• gnomAD v3: 8-127473681-AG-A
• gnomAD v4: 8-127473681-AG-A
• MyVariant Identifiers: chr8:g.128485927del (hg19) ; chr8:g.127473682del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127473683del , CM000670.2:g.127473683del	GRCh38
NC_000008.10:g.128485928del , CM000670.1:g.128485928del	GRCh37
NC_000008.9:g.128555110del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024393.1:n.1041+5401del
NR_117100.1:n.1041+5401del