Canonical Allele Identifier: CA658683902
Gene: STRA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 446174
ClinVar RCV Id: RCV000515456
dbSNP Id: rs1555457882

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74202151_74202152del , CM000677.2:g.74202151_74202152del GRCh38
NC_000015.9:g.74494492_74494493del , CM000677.1:g.74494492_74494493del GRCh37
NC_000015.8:g.72281545_72281546del NCBI36
NG_009207.1:g.11879_11880del
NG_054754.1:g.4447_4448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395105.9:c.113+3_113+4del MANE Select ENSP00000378537.4:n.113+3_113+4del
ENST00000323940.9:c.113+3_113+4del ENSP00000326085.5:n.113+3_113+4del
ENST00000395105.8:c.113+3_113+4del ENSP00000378537.4:n.113+3_113+4del
ENST00000416286.7:c.113+3_113+4del ENSP00000400403.3:n.113+3_113+4del
ENST00000423167.6:c.113+3_113+4del ENSP00000413012.2:n.113+3_113+4del
ENST00000432245.6:c.113+3_113+4del ENSP00000407176.2:n.113+3_113+4del
ENST00000449139.6:c.113+3_113+4del ENSP00000410221.2:n.113+3_113+4del
ENST00000535552.5:c.224+3_224+4del ENSP00000440238.1:n.224+3_224+4del
ENST00000563965.5:c.230+3_230+4del ENSP00000456609.1:n.230+3_230+4del
ENST00000569936.5:c.113+3_113+4del ENSP00000461799.1:n.113+3_113+4del
ENST00000571341.1:c.113+3_113+4del ENSP00000458204.1:n.113+3_113+4del
ENST00000573214.5:n.193+3_193+4del
ENST00000573391.1:c.113+3_113+4del ENSP00000458734.1:n.113+3_113+4del
ENST00000573456.5:n.246+3_246+4del
ENST00000573724.1:n.251+3_251+4del
ENST00000574278.5:c.158+3_158+4del ENSP00000458827.1:n.158+3_158+4del
ENST00000574439.5:n.341+3_341+4del
ENST00000574570.1:n.265+3_265+4del
ENST00000616000.4:c.113+3_113+4del ENSP00000479112.1:n.113+3_113+4del
NM_001142617.1:c.113+3_113+4del NP_001136089.1:n.113+3_113+4del
NM_001142618.1:c.113+3_113+4del NP_001136090.1:n.113+3_113+4del
NM_001142619.1:c.113+3_113+4del NP_001136091.1:n.113+3_113+4del
NM_001142620.1:c.113+3_113+4del NP_001136092.1:n.113+3_113+4del
NM_001199040.1:c.224+3_224+4del NP_001185969.1:n.224+3_224+4del
NM_001199041.1:c.158+3_158+4del NP_001185970.1:n.158+3_158+4del
NM_001199042.1:c.230+3_230+4del NP_001185971.1:n.230+3_230+4del
NM_022369.3:c.113+3_113+4del NP_071764.3:n.113+3_113+4del
XM_011521883.1:c.113+3_113+4del XP_011520185.1:n.113+3_113+4del
XM_011521884.1:c.-184+3_-184+4del XP_011520186.1:n.-184+3_-184+4del
XM_011521885.1:c.230+3_230+4del XP_011520187.1:n.230+3_230+4del
XR_931877.1:n.236+3_236+4del
XM_011521885.2:c.230+3_230+4del XP_011520187.1:n.230+3_230+4del
XM_017022478.1:c.161+3_161+4del XP_016877967.1:n.161+3_161+4del
XM_017022479.1:c.113+3_113+4del XP_016877968.1:n.113+3_113+4del
XM_017022480.1:c.-184+3_-184+4del XP_016877969.1:n.-184+3_-184+4del
XR_931877.2:n.236+3_236+4del
NM_022369.4:c.113+3_113+4del MANE Select NP_071764.3:n.113+3_113+4del
NM_001142617.2:c.113+3_113+4del NP_001136089.1:n.113+3_113+4del
NM_001142619.2:c.113+3_113+4del NP_001136091.1:n.113+3_113+4del
NM_001199042.2:c.230+3_230+4del NP_001185971.1:n.230+3_230+4del
NM_001142618.2:c.113+3_113+4del NP_001136090.1:n.113+3_113+4del
NM_001142620.2:c.113+3_113+4del NP_001136092.1:n.113+3_113+4del
NM_001199040.2:c.224+3_224+4del NP_001185969.1:n.224+3_224+4del
NM_001199041.2:c.158+3_158+4del NP_001185970.1:n.158+3_158+4del