Canonical Allele Identifier: CA4715350

Gene: STAR

Linked Data

• ClinVar Variation Id: 632520
• ClinVar RCV Id: RCV000779556 ; RCV000792850
• dbSNP Id: rs750549499
• ExAC: 8:38006211 G / GC
• gnomAD v2: 8-38006211-G-GC
• gnomAD v4: 8-38148693-G-GC
• COSMIC: COSM270676
• MyVariant Identifiers: chr8:g.38006212_38006213insC (hg19) ; chr8:g.38006211_38006212insC (hg19) ; chr8:g.38148694_38148695insC (hg38) ; chr8:g.38148693_38148694insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38148699dup , CM000670.2:g.38148699dup	GRCh38
NC_000008.10:g.38006217dup , CM000670.1:g.38006217dup	GRCh37
NC_000008.9:g.38125374dup	NCBI36
NG_011827.1:g.7389dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000276449.9:c.125dup MANE Select	ENSP00000276449.3:p.Thr44HisfsTer3
ENST00000276449.8:c.125dup	ENSP00000276449.3:p.Thr44HisfsTer3
ENST00000520114.1:n.299dup
ENST00000521236.1:c.-154dup	ENSP00000430030.1:n.-154dup
ENST00000522050.1:c.61dup
NM_000349.2:c.125dup	NP_000340.2:p.Thr44HisfsTer3
XM_006716392.1:c.125dup	XP_006716455.1:p.Thr44HisfsTer3
NM_000349.3:c.125dup MANE Select	NP_000340.2:p.Thr44HisfsTer3