Canonical Allele Identifier: CA635266187

Gene: CST3

Linked Data

• dbSNP Id: rs1281634117
• gnomAD v2: 20-23618253-GCACCTGCTTGCGGGCGCGCAC-G
• gnomAD v3: 20-23637616-GCACCTGCTTGCGGGCGCGCAC-G
• gnomAD v4: 20-23637616-GCACCTGCTTGCGGGCGCGCAC-G
• MyVariant Identifiers: chr20:g.23618254_23618274del (hg19) ; chr20:g.23637617_23637637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637624_23637644del , CM000682.2:g.23637624_23637644del	GRCh38
NC_000020.10:g.23618261_23618281del , CM000682.1:g.23618261_23618281del	GRCh37
NC_000020.9:g.23566261_23566281del	NCBI36
NG_012887.2:g.5301_5321del
NG_012887.3:g.5301_5321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376925.8:c.226_243+3del
ENST00000376925.7:c.226_243+3del
ENST00000398409.1:c.226_243+3del
ENST00000398411.5:c.226_243+3del
NM_000099.3:c.226_243+3del
NM_001288614.1:c.226_243+3del
NM_000099.4:c.226_243+3del
NM_001288614.2:c.226_243+3del