Canonical Allele Identifier: CA4715188

Gene: STAR

Linked Data

• dbSNP Id: rs778797575
• ExAC: 8:38003441 T / TA
• gnomAD v2: 8-38003441-T-TA
• gnomAD v4: 8-38145923-T-TA
• MyVariant Identifiers: chr8:g.38003441_38003442insA (hg19) ; chr8:g.38145923_38145924insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145923_38145924insA , CM000670.2:g.38145923_38145924insA	GRCh38
NC_000008.10:g.38003441_38003442insA , CM000670.1:g.38003441_38003442insA	GRCh37
NC_000008.9:g.38122598_38122599insA	NCBI36
NG_011827.1:g.10159_10160insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.650+39_650+40insT MANE Select	ENSP00000276449.3:n.650+39_650+40insT
ENST00000276449.8:c.650+39_650+40insT	ENSP00000276449.3:n.650+39_650+40insT
ENST00000520114.1:n.1176_1177insT
ENST00000522050.1:c.586+39_586+40insT
NM_000349.2:c.650+39_650+40insT	NP_000340.2:n.650+39_650+40insT
XM_006716392.1:c.650+39_650+40insT	XP_006716455.1:n.650+39_650+40insT
NM_000349.3:c.650+39_650+40insT MANE Select	NP_000340.2:n.650+39_650+40insT