Canonical Allele Identifier: CA4715202

Gene: STAR

Linked Data

• ClinVar Variation Id: 370502
• ClinVar RCV Id: RCV000410363 ; RCV001218367
• dbSNP Id: rs771895449
• ExAC: 8:38003500 CAG / C
• gnomAD v2: 8-38003500-CAG-C
• gnomAD v3: 8-38145982-CAG-C
• gnomAD v4: 8-38145982-CAG-C
• MyVariant Identifiers: chr8:g.38003501_38003502del (hg19) ; chr8:g.38145983_38145984del (hg38)
• PubMed: PMID:15985476

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145983_38145984del , CM000670.2:g.38145983_38145984del	GRCh38
NC_000008.10:g.38003501_38003502del , CM000670.1:g.38003501_38003502del	GRCh37
NC_000008.9:g.38122658_38122659del	NCBI36
NG_011827.1:g.10099_10100del

Transcript Alleles

HGVS	Amino-acid change
ENST00000276449.9:c.629_630del MANE Select	ENSP00000276449.3:p.Pro210ArgfsTer26
ENST00000276449.8:c.629_630del	ENSP00000276449.3:p.Pro210ArgfsTer26
ENST00000520114.1:n.1116_1117del
ENST00000522050.1:c.565_566del
NM_000349.2:c.629_630del	NP_000340.2:p.Pro210ArgfsTer26
XM_006716392.1:c.629_630del	XP_006716455.1:p.Pro210ArgfsTer?
NM_000349.3:c.629_630del MANE Select	NP_000340.2:p.Pro210ArgfsTer26