Canonical Allele Identifier: CA1950146978

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392483_6392486delinsTCCC , CM000673.2:g.6392483_6392486delinsTCCC	GRCh38
NC_000011.9:g.6413713_6413716delinsTCCC , CM000673.1:g.6413713_6413716delinsTCCC	GRCh37
NC_000011.8:g.6370289_6370292delinsTCCC	NCBI36
NG_011780.1:g.7059_7062delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+327_1091+330delinsTCCC MANE Select	ENSP00000340409.4:n.1091+327_1091+330delinsTCCC
ENST00000342245.8:c.1091+327_1091+330delinsTCCC	ENSP00000340409.4:n.1091+327_1091+330delinsTCCC
ENST00000526280.1:c.320+287_320+290delinsTCCC
ENST00000527275.5:c.1088+327_1088+330delinsTCCC	ENSP00000435350.1:n.1088+327_1088+330delinsTCCC
ENST00000531303.5:c.439-733_439-730delinsTCCC	ENSP00000432625.1:n.439-733_439-730delinsTCCC
ENST00000533123.5:c.1091+327_1091+330delinsTCCC	ENSP00000435950.1:n.1091+327_1091+330delinsTCCC
ENST00000534405.5:c.1131+287_1131+290delinsTCCC	ENSP00000434353.1:n.1131+287_1131+290delinsTCCC
NM_000543.4:c.1091+327_1091+330delinsTCCC	NP_000534.3:n.1091+327_1091+330delinsTCCC
NM_001007593.2:c.1088+327_1088+330delinsTCCC	NP_001007594.2:n.1088+327_1088+330delinsTCCC
XM_005253075.3:c.1091+327_1091+330delinsTCCC	XP_005253132.1:n.1091+327_1091+330delinsTCCC
XM_011520303.1:c.1131+287_1131+290delinsTCCC	XP_011518605.1:n.1131+287_1131+290delinsTCCC
XM_011520304.1:c.1131+287_1131+290delinsTCCC	XP_011518606.1:n.1131+287_1131+290delinsTCCC
XR_930886.1:n.1429+287_1429+290delinsTCCC
NM_001318087.1:c.1091+327_1091+330delinsTCCC	NP_001305016.1:n.1091+327_1091+330delinsTCCC
NM_001318088.1:c.170+287_170+290delinsTCCC	NP_001305017.1:n.170+287_170+290delinsTCCC
NM_001365135.1:c.1131+287_1131+290delinsTCCC	NP_001352064.1:n.1131+287_1131+290delinsTCCC
NR_027400.2:n.1276+327_1276+330delinsTCCC
NR_134502.1:n.624-733_624-730delinsTCCC
XM_011520304.2:c.1131+287_1131+290delinsTCCC	XP_011518606.1:n.1131+287_1131+290delinsTCCC
XR_001747940.2:n.1256+287_1256+290delinsTCCC
XR_002957158.1:n.1256+287_1256+290delinsTCCC
NM_000543.5:c.1091+327_1091+330delinsTCCC MANE Select	NP_000534.3:n.1091+327_1091+330delinsTCCC
NM_001007593.3:c.1088+327_1088+330delinsTCCC	NP_001007594.2:n.1088+327_1088+330delinsTCCC
NM_001318087.2:c.1091+327_1091+330delinsTCCC	NP_001305016.1:n.1091+327_1091+330delinsTCCC
NM_001318088.2:c.170+287_170+290delinsTCCC	NP_001305017.1:n.170+287_170+290delinsTCCC
NM_001365135.2:c.1131+287_1131+290delinsTCCC	NP_001352064.1:n.1131+287_1131+290delinsTCCC
NR_027400.3:n.1216+327_1216+330delinsTCCC
NR_134502.2:n.564-733_564-730delinsTCCC