Canonical Allele Identifier: CA4715352
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs750549499
ExAC: 8:38006211 GC / G
gnomAD v2: 8-38006211-GC-G
gnomAD v4: 8-38148693-GC-G
COSMIC: COSM2960136
MyVariant Identifiers: chr8:g.38006212del (hg19) chr8:g.38148694del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38148699del , CM000670.2:g.38148699del GRCh38
NC_000008.10:g.38006217del , CM000670.1:g.38006217del GRCh37
NC_000008.9:g.38125374del NCBI36
NG_011827.1:g.7389del

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.125del MANE Select ENSP00000276449.3:p.Gly42AlafsTer?
ENST00000276449.8:c.125del ENSP00000276449.3:p.Gly42AlafsTer?
ENST00000520114.1:n.299del
ENST00000521236.1:c.-154del ENSP00000430030.1:n.-154del
ENST00000522050.1:c.61del
NM_000349.2:c.125del NP_000340.2:p.Gly42AlafsTer?
XM_006716392.1:c.125del XP_006716455.1:p.Gly42AlafsTer?
NM_000349.3:c.125del MANE Select NP_000340.2:p.Gly42AlafsTer?
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