Canonical Allele Identifier: CA2695213119

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391806_6391807delinsGC , CM000673.2:g.6391806_6391807delinsGC	GRCh38
NC_000011.9:g.6413036_6413037delinsGC , CM000673.1:g.6413036_6413037delinsGC	GRCh37
NC_000011.8:g.6369612_6369613delinsGC	NCBI36
NG_011780.1:g.6382_6383delinsGC

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.741_742delinsGC MANE Select	NP_000534.3:p.Glu248Gln
ENST00000342245.9:c.741_742delinsGC MANE Select	ENSP00000340409.4:p.Glu248Gln
NM_000543.4:c.741_742delinsGC	NP_000534.3:p.Glu248Gln
NM_001007593.2:c.738_739delinsGC	NP_001007594.2:p.Glu247Gln
NM_001007593.3:c.738_739delinsGC	NP_001007594.2:p.Glu247Gln
NM_001318087.1:c.741_742delinsGC	NP_001305016.1:p.Glu248Gln
NM_001318087.2:c.741_742delinsGC	NP_001305016.1:p.Glu248Gln
NM_001318088.1:c.-221_-220delinsGC	NP_001305017.1:n.-221_-220delinsGC
NM_001318088.2:c.-221_-220delinsGC	NP_001305017.1:n.-221_-220delinsGC
NM_001365135.1:c.741_742delinsGC	NP_001352064.1:p.Glu248Gln
NM_001365135.2:c.741_742delinsGC	NP_001352064.1:p.Glu248Gln
NR_027400.2:n.926_927delinsGC
NR_027400.3:n.866_867delinsGC
NR_134502.1:n.623+303_623+304delinsGC
NR_134502.2:n.563+303_563+304delinsGC
ENST00000342245.8:c.741_742delinsGC	ENSP00000340409.4:p.Glu248Gln
ENST00000527275.5:c.738_739delinsGC	ENSP00000435350.1:p.Glu247Gln
ENST00000530395.1:c.-79_-78delinsGC	ENSP00000431479.1:n.-79_-78delinsGC
ENST00000531303.5:c.438+303_438+304delinsGC	ENSP00000432625.1:n.438+303_438+304delinsGC
ENST00000533123.5:c.741_742delinsGC	ENSP00000435950.1:p.Glu248Gln
ENST00000533196.1:n.375-200_375-199delinsGC
ENST00000534405.5:c.741_742delinsGC	ENSP00000434353.1:p.Glu248Gln
XM_005253075.3:c.741_742delinsGC	XP_005253132.1:p.Glu248Gln
XM_011520303.1:c.741_742delinsGC	XP_011518605.1:p.Glu248Gln
XM_011520304.1:c.741_742delinsGC	XP_011518606.1:p.Glu248Gln
XM_011520304.2:c.741_742delinsGC	XP_011518606.1:p.Glu248Gln
XR_001747940.2:n.866_867delinsGC
XR_002957158.1:n.866_867delinsGC
XR_930886.1:n.1039_1040delinsGC