Canonical Allele Identifier: CA2832528689
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391799_6391804del , CM000673.2:g.6391799_6391804del GRCh38
NC_000011.9:g.6413029_6413034del , CM000673.1:g.6413029_6413034del GRCh37
NC_000011.8:g.6369605_6369610del NCBI36
NG_011780.1:g.6375_6380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.734_739del MANE Select ENSP00000340409.4:p.Tyr245_Gly247delinsCys
ENST00000342245.8:c.734_739del ENSP00000340409.4:p.Tyr245_Gly247delinsCys
ENST00000527275.5:c.731_736del ENSP00000435350.1:p.Tyr244_Gly246delinsCys
ENST00000530395.1:c.-86_-81del ENSP00000431479.1:n.-86_-81del
ENST00000531303.5:c.438+296_438+301del ENSP00000432625.1:n.438+296_438+301del
ENST00000533123.5:c.734_739del ENSP00000435950.1:p.Tyr245_Gly247delinsCys
ENST00000533196.1:n.375-207_375-202del
ENST00000534405.5:c.734_739del ENSP00000434353.1:p.Tyr245_Gly247delinsCys
NM_000543.4:c.734_739del NP_000534.3:p.Tyr245_Gly247delinsCys
NM_001007593.2:c.731_736del NP_001007594.2:p.Tyr244_Gly246delinsCys
XM_005253075.3:c.734_739del XP_005253132.1:p.Tyr245_Gly247delinsCys
XM_011520303.1:c.734_739del XP_011518605.1:p.Tyr245_Gly247delinsCys
XM_011520304.1:c.734_739del XP_011518606.1:p.Tyr245_Gly247delinsCys
XR_930886.1:n.1032_1037del
NM_001318087.1:c.734_739del NP_001305016.1:p.Tyr245_Gly247delinsCys
NM_001318088.1:c.-228_-223del NP_001305017.1:n.-228_-223del
NM_001365135.1:c.734_739del NP_001352064.1:p.Tyr245_Gly247delinsCys
NR_027400.2:n.919_924del
NR_134502.1:n.623+296_623+301del
XM_011520304.2:c.734_739del XP_011518606.1:p.Tyr245_Gly247delinsCys
XR_001747940.2:n.859_864del
XR_002957158.1:n.859_864del
NM_000543.5:c.734_739del MANE Select NP_000534.3:p.Tyr245_Gly247delinsCys
NM_001007593.3:c.731_736del NP_001007594.2:p.Tyr244_Gly246delinsCys
NM_001318087.2:c.734_739del NP_001305016.1:p.Tyr245_Gly247delinsCys
NM_001318088.2:c.-228_-223del NP_001305017.1:n.-228_-223del
NM_001365135.2:c.734_739del NP_001352064.1:p.Tyr245_Gly247delinsCys
NR_027400.3:n.859_864del
NR_134502.2:n.563+296_563+301del