Canonical Allele Identifier: CA175095650

Gene: STAR

Linked Data

• dbSNP Id: rs972399249
• gnomAD v2: 8-38003344-ATCT-A
• gnomAD v3: 8-38145826-ATCT-A
• gnomAD v4: 8-38145826-ATCT-A
• MyVariant Identifiers: chr8:g.38003345_38003347del (hg19) ; chr8:g.38145827_38145829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145831_38145833del , CM000670.2:g.38145831_38145833del	GRCh38
NC_000008.10:g.38003349_38003351del , CM000670.1:g.38003349_38003351del	GRCh37
NC_000008.9:g.38122506_38122508del	NCBI36
NG_011827.1:g.10254_10256del

Transcript Alleles

HGVS	Amino-acid change
ENST00000276449.9:c.650+134_650+136del MANE Select	ENSP00000276449.3:n.650+134_650+136del
ENST00000276449.8:c.650+134_650+136del	ENSP00000276449.3:n.650+134_650+136del
ENST00000520114.1:n.1271_1273del
ENST00000522050.1:c.586+134_586+136del
NM_000349.2:c.650+134_650+136del	NP_000340.2:n.650+134_650+136del
XM_006716392.1:c.650+134_650+136del	XP_006716455.1:n.650+134_650+136del
NM_000349.3:c.650+134_650+136del MANE Select	NP_000340.2:n.650+134_650+136del