Canonical Allele Identifier: CA2723269431
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs2134005616

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390715_6390719del , CM000673.2:g.6390715_6390719del GRCh38
NC_000011.9:g.6411945_6411949del , CM000673.1:g.6411945_6411949del GRCh37
NC_000011.8:g.6368521_6368525del NCBI36
NG_011780.1:g.5291_5295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.117_121del MANE Select ENSP00000340409.4:p.Ala40GlyfsTer10
ENST00000342245.8:c.117_121del ENSP00000340409.4:p.Ala40GlyfsTer10
ENST00000527275.5:c.117_121del ENSP00000435350.1:p.Ala40GlyfsTer10
ENST00000530395.1:c.-96+76_-96+80del ENSP00000431479.1:n.-96+76_-96+80del
ENST00000531303.5:c.117_121del ENSP00000432625.1:p.Ala40GlyfsTer10
ENST00000533123.5:c.117_121del ENSP00000435950.1:p.Ala40GlyfsTer10
ENST00000533196.1:n.276_280del
ENST00000534405.5:c.117_121del ENSP00000434353.1:p.Ala40GlyfsTer10
NM_000543.4:c.117_121del NP_000534.3:p.Ala40GlyfsTer10
NM_001007593.2:c.117_121del NP_001007594.2:p.Ala40GlyfsTer10
XM_005253075.3:c.117_121del XP_005253132.1:p.Ala40GlyfsTer10
XM_011520303.1:c.117_121del XP_011518605.1:p.Ala40GlyfsTer10
XM_011520304.1:c.117_121del XP_011518606.1:p.Ala40GlyfsTer10
XR_930886.1:n.415_419del
NM_001318087.1:c.117_121del NP_001305016.1:p.Ala40GlyfsTer10
NM_001318088.1:c.-845_-841del NP_001305017.1:n.-845_-841del
NM_001365135.1:c.117_121del NP_001352064.1:p.Ala40GlyfsTer10
NR_027400.2:n.302_306del
NR_134502.1:n.302_306del
XM_011520304.2:c.117_121del XP_011518606.1:p.Ala40GlyfsTer10
XR_001747940.2:n.242_246del
XR_002957158.1:n.242_246del
NM_000543.5:c.117_121del MANE Select NP_000534.3:p.Ala40GlyfsTer10
NM_001007593.3:c.117_121del NP_001007594.2:p.Ala40GlyfsTer10
NM_001318087.2:c.117_121del NP_001305016.1:p.Ala40GlyfsTer10
NM_001318088.2:c.-845_-841del NP_001305017.1:n.-845_-841del
NM_001365135.2:c.117_121del NP_001352064.1:p.Ala40GlyfsTer10
NR_027400.3:n.242_246del
NR_134502.2:n.242_246del