Canonical Allele Identifier: CA16621019
Gene: CSTB HGNC NCBI

Linked Data

ClinVar Variation Id: 423466
dbSNP Id: rs1044894207

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43776268_43776269insAT , CM000683.2:g.43776268_43776269insAT GRCh38
NC_000021.8:g.45196149_45196150insAT , CM000683.1:g.45196149_45196150insAT GRCh37
NC_000021.7:g.44020577_44020578insAT NCBI36
NG_011545.1:g.5110_5111insAT , LRG_485:g.5110_5111insAT

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.1_2insAT MANE Select ENSP00000291568.6:p.Met1AsnfsTer2
ENST00000640406.1:c.1_2insAT ENSP00000492672.1:p.Met1AsnfsTer2
ENST00000675996.1:n.62_63insAT
ENST00000291568.5:c.1_2insAT ENSP00000291568.5:p.Met1AsnfsTer2
ENST00000480147.1:n.38_39insAT
NM_000100.3:c.1_2insAT , LRG_485t1:c.1_2insAT NP_000091.1:p.Met1AsnfsTer2
NM_000100.4:c.1_2insAT MANE Select NP_000091.1:p.Met1AsnfsTer2