Canonical Allele Identifier: CA4715208
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1725633
ClinVar RCV Id: RCV002309317
dbSNP Id: rs772816005
ExAC: 8:38003518 CTG / C
gnomAD v2: 8-38003518-CTG-C
gnomAD v4: 8-38146000-CTG-C
MyVariant Identifiers: chr8:g.38003519_38003520del (hg19) chr8:g.38146001_38146002del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146003_38146004del , CM000670.2:g.38146003_38146004del GRCh38
NC_000008.10:g.38003521_38003522del , CM000670.1:g.38003521_38003522del GRCh37
NC_000008.9:g.38122678_38122679del NCBI36
NG_011827.1:g.10081_10082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.611_612del MANE Select ENSP00000276449.3:p.Thr204ArgfsTer7
ENST00000276449.8:c.611_612del ENSP00000276449.3:p.Thr204ArgfsTer7
ENST00000520114.1:n.1098_1099del
ENST00000522050.1:c.547_548del
NM_000349.2:c.611_612del NP_000340.2:p.Thr204ArgfsTer7
XM_006716392.1:c.611_612del XP_006716455.1:p.Thr204ArgfsTer7
NM_000349.3:c.611_612del MANE Select NP_000340.2:p.Thr204ArgfsTer7
Search 100 bp 5'
Search 100 bp 3'