Canonical Allele Identifier: CA1112877522
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1802558462
gnomAD v3: 8-38145793-ATCTTGTCTTTG-A
gnomAD v4: 8-38145793-ATCTTGTCTTTG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145796_38145806del , CM000670.2:g.38145796_38145806del GRCh38
NC_000008.10:g.38003314_38003324del , CM000670.1:g.38003314_38003324del GRCh37
NC_000008.9:g.38122471_38122481del NCBI36
NG_011827.1:g.10279_10289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.650+159_650+169del MANE Select ENSP00000276449.3:n.650+159_650+169del
ENST00000276449.8:c.650+159_650+169del ENSP00000276449.3:n.650+159_650+169del
ENST00000520114.1:n.1296_1306del
ENST00000522050.1:c.586+159_586+169del
NM_000349.2:c.650+159_650+169del NP_000340.2:n.650+159_650+169del
XM_006716392.1:c.650+159_650+169del XP_006716455.1:n.650+159_650+169del
NM_000349.3:c.650+159_650+169del MANE Select NP_000340.2:n.650+159_650+169del
Search 100 bp 5'
Search 100 bp 3'