Canonical Allele Identifier: CA1950146979

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392483_6392485delinsTCC , CM000673.2:g.6392483_6392485delinsTCC	GRCh38
NC_000011.9:g.6413713_6413715delinsTCC , CM000673.1:g.6413713_6413715delinsTCC	GRCh37
NC_000011.8:g.6370289_6370291delinsTCC	NCBI36
NG_011780.1:g.7059_7061delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+327_1091+329delinsTCC MANE Select	ENSP00000340409.4:n.1091+327_1091+329delinsTCC
ENST00000342245.8:c.1091+327_1091+329delinsTCC	ENSP00000340409.4:n.1091+327_1091+329delinsTCC
ENST00000526280.1:c.320+287_320+289delinsTCC
ENST00000527275.5:c.1088+327_1088+329delinsTCC	ENSP00000435350.1:n.1088+327_1088+329delinsTCC
ENST00000531303.5:c.439-733_439-731delinsTCC	ENSP00000432625.1:n.439-733_439-731delinsTCC
ENST00000533123.5:c.1091+327_1091+329delinsTCC	ENSP00000435950.1:n.1091+327_1091+329delinsTCC
ENST00000534405.5:c.1131+287_1131+289delinsTCC	ENSP00000434353.1:n.1131+287_1131+289delinsTCC
NM_000543.4:c.1091+327_1091+329delinsTCC	NP_000534.3:n.1091+327_1091+329delinsTCC
NM_001007593.2:c.1088+327_1088+329delinsTCC	NP_001007594.2:n.1088+327_1088+329delinsTCC
XM_005253075.3:c.1091+327_1091+329delinsTCC	XP_005253132.1:n.1091+327_1091+329delinsTCC
XM_011520303.1:c.1131+287_1131+289delinsTCC	XP_011518605.1:n.1131+287_1131+289delinsTCC
XM_011520304.1:c.1131+287_1131+289delinsTCC	XP_011518606.1:n.1131+287_1131+289delinsTCC
XR_930886.1:n.1429+287_1429+289delinsTCC
NM_001318087.1:c.1091+327_1091+329delinsTCC	NP_001305016.1:n.1091+327_1091+329delinsTCC
NM_001318088.1:c.170+287_170+289delinsTCC	NP_001305017.1:n.170+287_170+289delinsTCC
NM_001365135.1:c.1131+287_1131+289delinsTCC	NP_001352064.1:n.1131+287_1131+289delinsTCC
NR_027400.2:n.1276+327_1276+329delinsTCC
NR_134502.1:n.624-733_624-731delinsTCC
XM_011520304.2:c.1131+287_1131+289delinsTCC	XP_011518606.1:n.1131+287_1131+289delinsTCC
XR_001747940.2:n.1256+287_1256+289delinsTCC
XR_002957158.1:n.1256+287_1256+289delinsTCC
NM_000543.5:c.1091+327_1091+329delinsTCC MANE Select	NP_000534.3:n.1091+327_1091+329delinsTCC
NM_001007593.3:c.1088+327_1088+329delinsTCC	NP_001007594.2:n.1088+327_1088+329delinsTCC
NM_001318087.2:c.1091+327_1091+329delinsTCC	NP_001305016.1:n.1091+327_1091+329delinsTCC
NM_001318088.2:c.170+287_170+289delinsTCC	NP_001305017.1:n.170+287_170+289delinsTCC
NM_001365135.2:c.1131+287_1131+289delinsTCC	NP_001352064.1:n.1131+287_1131+289delinsTCC
NR_027400.3:n.1216+327_1216+329delinsTCC
NR_134502.2:n.564-733_564-731delinsTCC