Canonical Allele Identifier: CA214255
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 36782
dbSNP Id: rs193922393

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38148684del , CM000670.2:g.38148684del GRCh38
NC_000008.10:g.38006202del , CM000670.1:g.38006202del GRCh37
NC_000008.9:g.38125359del NCBI36
NG_011827.1:g.7399del

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.135del MANE Select ENSP00000276449.3:p.Ser46AlafsTer?
ENST00000276449.8:c.135del ENSP00000276449.3:p.Ser46AlafsTer?
ENST00000520114.1:n.309del
ENST00000521236.1:c.-144del ENSP00000430030.1:p.=
ENST00000522050.1:n.71del
NM_000349.2:c.135del NP_000340.2:p.Ser46AlafsTer?
XM_006716392.1:c.135del XP_006716455.1:p.Ser46AlafsTer?
NM_000349.3:c.135del MANE Select NP_000340.2:p.Ser46AlafsTer?