Canonical Allele Identifier: CA2577920690
Gene: SLC25A36 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140963145_140963157del , CM000665.2:g.140963145_140963157del GRCh38
NC_000003.11:g.140681987_140681999del , CM000665.1:g.140681987_140681999del GRCh37
NC_000003.10:g.142164677_142164689del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324194.12:c.303_315del MANE Select ENSP00000320688.6:p.Tyr102ArgfsTer4
ENST00000648615.1:c.303_315del ENSP00000497436.1:p.Tyr102ArgfsTer4
ENST00000324194.10:c.303_315del ENSP00000320688.6:p.Tyr102ArgfsTer4
ENST00000393015.8:n.505_517del
ENST00000446041.6:c.303_315del ENSP00000401938.2:p.Tyr102ArgfsTer4
ENST00000453248.6:c.225_237del ENSP00000391521.2:p.Tyr76ArgfsTer4
ENST00000502594.5:c.303_315del ENSP00000423319.1:p.Tyr102ArgfsTer4
ENST00000507429.5:c.303_315del ENSP00000421470.1:p.Tyr102ArgfsTer4
ENST00000512023.5:c.153_165del ENSP00000424505.1:p.Tyr52ArgfsTer4
ENST00000512506.5:c.153_165del ENSP00000423711.1:p.Tyr52ArgfsTer4
ENST00000513887.5:c.75_87del ENSP00000422265.1:p.Tyr26ArgfsTer4
ENST00000515813.1:n.412_424del
ENST00000631654.1:c.303_315del ENSP00000487839.1:p.Tyr102ArgfsTer4
NM_001104647.1:c.303_315del NP_001098117.1:p.Tyr102ArgfsTer4
NM_018155.2:c.303_315del NP_060625.2:p.Tyr102ArgfsTer4
XM_006713685.2:c.-804_-792del XP_006713748.1:n.-804_-792del
XM_011512951.1:c.399_411del XP_011511253.1:p.Tyr134ArgfsTer4
XM_011512952.1:c.-152_-140del XP_011511254.1:n.-152_-140del
XM_011512953.1:c.399_411del XP_011511255.1:p.Tyr134ArgfsTer4
XR_924150.1:n.592_604del
XR_924151.1:n.592_604del
XR_924152.1:n.592_604del
XR_924153.1:n.592_604del
XR_924154.1:n.592_604del
XR_924155.1:n.592_604del
XR_924156.1:n.592_604del
XR_924157.1:n.592_604del
NM_001104647.3:c.303_315del MANE Select NP_001098117.1:p.Tyr102ArgfsTer4
NM_018155.3:c.303_315del NP_060625.2:p.Tyr102ArgfsTer4