Canonical Allele Identifier: CA1950145908

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391021_6391022delinsAG , CM000673.2:g.6391021_6391022delinsAG	GRCh38
NC_000011.9:g.6412251_6412252delinsAG , CM000673.1:g.6412251_6412252delinsAG	GRCh37
NC_000011.8:g.6368827_6368828delinsAG	NCBI36
NG_011780.1:g.5597_5598delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+105_318+106delinsAG MANE Select	ENSP00000340409.4:n.318+105_318+106delinsAG
ENST00000342245.8:c.318+105_318+106delinsAG	ENSP00000340409.4:n.318+105_318+106delinsAG
ENST00000527275.5:c.318+105_318+106delinsAG	ENSP00000435350.1:n.318+105_318+106delinsAG
ENST00000530395.1:c.-96+382_-96+383delinsAG	ENSP00000431479.1:n.-96+382_-96+383delinsAG
ENST00000531303.5:c.318+105_318+106delinsAG	ENSP00000432625.1:n.318+105_318+106delinsAG
ENST00000533123.5:c.318+105_318+106delinsAG	ENSP00000435950.1:n.318+105_318+106delinsAG
ENST00000533196.1:n.374+208_374+209delinsAG
ENST00000534405.5:c.318+105_318+106delinsAG	ENSP00000434353.1:n.318+105_318+106delinsAG
NM_000543.4:c.318+105_318+106delinsAG	NP_000534.3:n.318+105_318+106delinsAG
NM_001007593.2:c.318+105_318+106delinsAG	NP_001007594.2:n.318+105_318+106delinsAG
XM_005253075.3:c.318+105_318+106delinsAG	XP_005253132.1:n.318+105_318+106delinsAG
XM_011520303.1:c.318+105_318+106delinsAG	XP_011518605.1:n.318+105_318+106delinsAG
XM_011520304.1:c.318+105_318+106delinsAG	XP_011518606.1:n.318+105_318+106delinsAG
XR_930886.1:n.616+105_616+106delinsAG
NM_001318087.1:c.318+105_318+106delinsAG	NP_001305016.1:n.318+105_318+106delinsAG
NM_001318088.1:c.-644+105_-644+106delinsAG	NP_001305017.1:n.-644+105_-644+106delinsAG
NM_001365135.1:c.318+105_318+106delinsAG	NP_001352064.1:n.318+105_318+106delinsAG
NR_027400.2:n.503+105_503+106delinsAG
NR_134502.1:n.503+105_503+106delinsAG
XM_011520304.2:c.318+105_318+106delinsAG	XP_011518606.1:n.318+105_318+106delinsAG
XR_001747940.2:n.443+105_443+106delinsAG
XR_002957158.1:n.443+105_443+106delinsAG
NM_000543.5:c.318+105_318+106delinsAG MANE Select	NP_000534.3:n.318+105_318+106delinsAG
NM_001007593.3:c.318+105_318+106delinsAG	NP_001007594.2:n.318+105_318+106delinsAG
NM_001318087.2:c.318+105_318+106delinsAG	NP_001305016.1:n.318+105_318+106delinsAG
NM_001318088.2:c.-644+105_-644+106delinsAG	NP_001305017.1:n.-644+105_-644+106delinsAG
NM_001365135.2:c.318+105_318+106delinsAG	NP_001352064.1:n.318+105_318+106delinsAG
NR_027400.3:n.443+105_443+106delinsAG
NR_134502.2:n.443+105_443+106delinsAG