Canonical Allele Identifier: CA1950146463

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392055_6392056delinsTC , CM000673.2:g.6392055_6392056delinsTC	GRCh38
NC_000011.9:g.6413285_6413286delinsTC , CM000673.1:g.6413285_6413286delinsTC	GRCh37
NC_000011.8:g.6369861_6369862delinsTC	NCBI36
NG_011780.1:g.6631_6632delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.990_991delinsTC MANE Select	ENSP00000340409.4:p.Pro330=
ENST00000342245.8:c.990_991delinsTC	ENSP00000340409.4:p.Pro330=
ENST00000526280.1:c.179_180delinsTC
ENST00000527275.5:c.987_988delinsTC	ENSP00000435350.1:p.Pro329=
ENST00000531303.5:c.438+552_438+553delinsTC	ENSP00000432625.1:n.438+552_438+553delinsTC
ENST00000533123.5:c.990_991delinsTC	ENSP00000435950.1:p.Pro330=
ENST00000533196.1:n.424_425delinsTC
ENST00000534405.5:c.990_991delinsTC	ENSP00000434353.1:p.Pro330=
NM_000543.4:c.990_991delinsTC	NP_000534.3:p.Pro330=
NM_001007593.2:c.987_988delinsTC	NP_001007594.2:p.Pro329=
XM_005253075.3:c.990_991delinsTC	XP_005253132.1:p.Pro330=
XM_011520303.1:c.990_991delinsTC	XP_011518605.1:p.Pro330=
XM_011520304.1:c.990_991delinsTC	XP_011518606.1:p.Pro330=
XR_930886.1:n.1288_1289delinsTC
NM_001318087.1:c.990_991delinsTC	NP_001305016.1:p.Pro330=
NM_001318088.1:c.29_30delinsTC	NP_001305017.1:p.Leu10=
NM_001365135.1:c.990_991delinsTC	NP_001352064.1:p.Pro330=
NR_027400.2:n.1175_1176delinsTC
NR_134502.1:n.623+552_623+553delinsTC
XM_011520304.2:c.990_991delinsTC	XP_011518606.1:p.Pro330=
XR_001747940.2:n.1115_1116delinsTC
XR_002957158.1:n.1115_1116delinsTC
NM_000543.5:c.990_991delinsTC MANE Select	NP_000534.3:p.Pro330=
NM_001007593.3:c.987_988delinsTC	NP_001007594.2:p.Pro329=
NM_001318087.2:c.990_991delinsTC	NP_001305016.1:p.Pro330=
NM_001318088.2:c.29_30delinsTC	NP_001305017.1:p.Leu10=
NM_001365135.2:c.990_991delinsTC	NP_001352064.1:p.Pro330=
NR_027400.3:n.1115_1116delinsTC
NR_134502.2:n.563+552_563+553delinsTC