Canonical Allele Identifier: CA2790302100

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390717_6390719del , CM000673.2:g.6390717_6390719del	GRCh38
NC_000011.9:g.6411947_6411949del , CM000673.1:g.6411947_6411949del	GRCh37
NC_000011.8:g.6368523_6368525del	NCBI36
NG_011780.1:g.5293_5295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.119_121del MANE Select	ENSP00000340409.4:p.Ala40_Leu41delinsVal
ENST00000342245.8:c.119_121del	ENSP00000340409.4:p.Ala40_Leu41delinsVal
ENST00000527275.5:c.119_121del	ENSP00000435350.1:p.Ala40_Leu41delinsVal
ENST00000530395.1:c.-96+78_-96+80del	ENSP00000431479.1:n.-96+78_-96+80del
ENST00000531303.5:c.119_121del	ENSP00000432625.1:p.Ala40_Leu41delinsVal
ENST00000533123.5:c.119_121del	ENSP00000435950.1:p.Ala40_Leu41delinsVal
ENST00000533196.1:n.278_280del
ENST00000534405.5:c.119_121del	ENSP00000434353.1:p.Ala40_Leu41delinsVal
NM_000543.4:c.119_121del	NP_000534.3:p.Ala40_Leu41delinsVal
NM_001007593.2:c.119_121del	NP_001007594.2:p.Ala40_Leu41delinsVal
XM_005253075.3:c.119_121del	XP_005253132.1:p.Ala40_Leu41delinsVal
XM_011520303.1:c.119_121del	XP_011518605.1:p.Ala40_Leu41delinsVal
XM_011520304.1:c.119_121del	XP_011518606.1:p.Ala40_Leu41delinsVal
XR_930886.1:n.417_419del
NM_001318087.1:c.119_121del	NP_001305016.1:p.Ala40_Leu41delinsVal
NM_001318088.1:c.-843_-841del	NP_001305017.1:n.-843_-841del
NM_001365135.1:c.119_121del	NP_001352064.1:p.Ala40_Leu41delinsVal
NR_027400.2:n.304_306del
NR_134502.1:n.304_306del
XM_011520304.2:c.119_121del	XP_011518606.1:p.Ala40_Leu41delinsVal
XR_001747940.2:n.244_246del
XR_002957158.1:n.244_246del
NM_000543.5:c.119_121del MANE Select	NP_000534.3:p.Ala40_Leu41delinsVal
NM_001007593.3:c.119_121del	NP_001007594.2:p.Ala40_Leu41delinsVal
NM_001318087.2:c.119_121del	NP_001305016.1:p.Ala40_Leu41delinsVal
NM_001318088.2:c.-843_-841del	NP_001305017.1:n.-843_-841del
NM_001365135.2:c.119_121del	NP_001352064.1:p.Ala40_Leu41delinsVal
NR_027400.3:n.244_246del
NR_134502.2:n.244_246del