Canonical Allele Identifier: CA658822459
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 551209
ClinVar RCV Id: RCV000666205
dbSNP Id: rs1554502663
MyVariant Identifiers: chr8:g.38144330dup (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144333dup , CM000670.2:g.38144333dup GRCh38
NC_000008.10:g.38001851dup , CM000670.1:g.38001851dup GRCh37
NC_000008.9:g.38121008dup NCBI36
NG_011827.1:g.11753dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.801dup MANE Select ENSP00000276449.3:p.Ala268CysfsTer15
ENST00000276449.8:c.801dup ENSP00000276449.3:p.Ala268CysfsTer15
ENST00000520114.1:n.2770dup
ENST00000522050.1:c.643dup
NM_000349.2:c.801dup NP_000340.2:p.Ala268CysfsTer15
XM_006716392.1:c.707dup XP_006716455.1:p.Leu236PhefsTer20
NM_000349.3:c.801dup MANE Select NP_000340.2:p.Ala268CysfsTer15