Canonical Allele Identifier: CA658799461

Gene: CSTB

Linked Data

• ClinVar Variation Id: 502097
• ClinVar RCV Id: RCV002531099
• dbSNP Id: rs1555888363
• gnomAD v3: 21-43774244-GTAGT-G
• gnomAD v4: 21-43774244-GTAGT-G
• MyVariant Identifiers: chr21:g.45194126_45194129del (hg19) ; chr21:g.43774245_43774248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774248_43774251del , CM000683.2:g.43774248_43774251del	GRCh38
NC_000021.8:g.45194129_45194132del , CM000683.1:g.45194129_45194132del	GRCh37
NC_000021.7:g.44018557_44018560del	NCBI36
NG_011545.1:g.7131_7134del , LRG_485:g.7131_7134del

Transcript Alleles

HGVS	Amino-acid change
ENST00000291568.7:c.251_254del MANE Select	ENSP00000291568.6:p.Asn84ThrfsTer11
ENST00000480147.3:n.2021_2024del
ENST00000639959.1:c.118_121del
ENST00000640406.1:c.*326_*329del	ENSP00000492672.1:n.*326_*329del
ENST00000675996.1:n.676_679del
ENST00000291568.5:c.251_254del	ENSP00000291568.5:p.Asn84ThrfsTer11
ENST00000480147.1:n.615_618del
NM_000100.3:c.251_254del , LRG_485t1:c.251_254del	NP_000091.1:p.Asn84ThrfsTer11
NM_000100.4:c.251_254del MANE Select	NP_000091.1:p.Asn84ThrfsTer11