Canonical Allele Identifier: CA581110016

Gene: STAR

Linked Data

• dbSNP Id: rs1419849726
• gnomAD v2: 8-38003444-TAGAAG-T
• gnomAD v3: 8-38145926-TAGAAG-T
• gnomAD v4: 8-38145926-TAGAAG-T
• MyVariant Identifiers: chr8:g.38003445_38003449del (hg19) ; chr8:g.38145927_38145931del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145929_38145933del , CM000670.2:g.38145929_38145933del	GRCh38
NC_000008.10:g.38003447_38003451del , CM000670.1:g.38003447_38003451del	GRCh37
NC_000008.9:g.38122604_38122608del	NCBI36
NG_011827.1:g.10152_10156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.650+32_650+36del MANE Select	ENSP00000276449.3:n.650+32_650+36del
ENST00000276449.8:c.650+32_650+36del	ENSP00000276449.3:n.650+32_650+36del
ENST00000520114.1:n.1169_1173del
ENST00000522050.1:c.586+32_586+36del
NM_000349.2:c.650+32_650+36del	NP_000340.2:n.650+32_650+36del
XM_006716392.1:c.650+32_650+36del	XP_006716455.1:n.650+32_650+36del
NM_000349.3:c.650+32_650+36del MANE Select	NP_000340.2:n.650+32_650+36del