Canonical Allele Identifier: CA581109596
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 556387
ClinVar RCV Id: RCV000672388 RCV001057126
dbSNP Id: rs1350908961
gnomAD v2: 8-38001837-AG-A
gnomAD v3: 8-38144319-AG-A
gnomAD v4: 8-38144319-AG-A
MyVariant Identifiers: chr8:g.38001838del (hg19) chr8:g.38144320del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144321del , CM000670.2:g.38144321del GRCh38
NC_000008.10:g.38001839del , CM000670.1:g.38001839del GRCh37
NC_000008.9:g.38120996del NCBI36
NG_011827.1:g.11763del

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.811del MANE Select ENSP00000276449.3:p.Leu271CysfsTer?
ENST00000276449.8:c.811del ENSP00000276449.3:p.Leu271CysfsTer?
ENST00000520114.1:n.2780del
ENST00000522050.1:c.653del
NM_000349.2:c.811del NP_000340.2:p.Leu271CysfsTer?
XM_006716392.1:c.717del XP_006716455.1:p.Cys240AlafsTer11
NM_000349.3:c.811del MANE Select NP_000340.2:p.Leu271CysfsTer?
Search 100 bp 5'
Search 100 bp 3'