Canonical Allele Identifier: CA1950146976

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392482_6392489delinsCTCCCTTT , CM000673.2:g.6392482_6392489delinsCTCCCTTT	GRCh38
NC_000011.9:g.6413712_6413719delinsCTCCCTTT , CM000673.1:g.6413712_6413719delinsCTCCCTTT	GRCh37
NC_000011.8:g.6370288_6370295delinsCTCCCTTT	NCBI36
NG_011780.1:g.7058_7065delinsCTCCCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+326_1091+333delinsCTCCCTTT MANE Select	ENSP00000340409.4:n.1091+326_1091+333delinsCTCCCTTT
ENST00000342245.8:c.1091+326_1091+333delinsCTCCCTTT	ENSP00000340409.4:n.1091+326_1091+333delinsCTCCCTTT
ENST00000526280.1:c.320+286_320+293delinsCTCCCTTT
ENST00000527275.5:c.1088+326_1088+333delinsCTCCCTTT	ENSP00000435350.1:n.1088+326_1088+333delinsCTCCCTTT
ENST00000531303.5:c.439-734_439-727delinsCTCCCTTT	ENSP00000432625.1:n.439-734_439-727delinsCTCCCTTT
ENST00000533123.5:c.1091+326_1091+333delinsCTCCCTTT	ENSP00000435950.1:n.1091+326_1091+333delinsCTCCCTTT
ENST00000534405.5:c.1131+286_1131+293delinsCTCCCTTT	ENSP00000434353.1:n.1131+286_1131+293delinsCTCCCTTT
NM_000543.4:c.1091+326_1091+333delinsCTCCCTTT	NP_000534.3:n.1091+326_1091+333delinsCTCCCTTT
NM_001007593.2:c.1088+326_1088+333delinsCTCCCTTT	NP_001007594.2:n.1088+326_1088+333delinsCTCCCTTT
XM_005253075.3:c.1091+326_1091+333delinsCTCCCTTT	XP_005253132.1:n.1091+326_1091+333delinsCTCCCTTT
XM_011520303.1:c.1131+286_1131+293delinsCTCCCTTT	XP_011518605.1:n.1131+286_1131+293delinsCTCCCTTT
XM_011520304.1:c.1131+286_1131+293delinsCTCCCTTT	XP_011518606.1:n.1131+286_1131+293delinsCTCCCTTT
XR_930886.1:n.1429+286_1429+293delinsCTCCCTTT
NM_001318087.1:c.1091+326_1091+333delinsCTCCCTTT	NP_001305016.1:n.1091+326_1091+333delinsCTCCCTTT
NM_001318088.1:c.170+286_170+293delinsCTCCCTTT	NP_001305017.1:n.170+286_170+293delinsCTCCCTTT
NM_001365135.1:c.1131+286_1131+293delinsCTCCCTTT	NP_001352064.1:n.1131+286_1131+293delinsCTCCCTTT
NR_027400.2:n.1276+326_1276+333delinsCTCCCTTT
NR_134502.1:n.624-734_624-727delinsCTCCCTTT
XM_011520304.2:c.1131+286_1131+293delinsCTCCCTTT	XP_011518606.1:n.1131+286_1131+293delinsCTCCCTTT
XR_001747940.2:n.1256+286_1256+293delinsCTCCCTTT
XR_002957158.1:n.1256+286_1256+293delinsCTCCCTTT
NM_000543.5:c.1091+326_1091+333delinsCTCCCTTT MANE Select	NP_000534.3:n.1091+326_1091+333delinsCTCCCTTT
NM_001007593.3:c.1088+326_1088+333delinsCTCCCTTT	NP_001007594.2:n.1088+326_1088+333delinsCTCCCTTT
NM_001318087.2:c.1091+326_1091+333delinsCTCCCTTT	NP_001305016.1:n.1091+326_1091+333delinsCTCCCTTT
NM_001318088.2:c.170+286_170+293delinsCTCCCTTT	NP_001305017.1:n.170+286_170+293delinsCTCCCTTT
NM_001365135.2:c.1131+286_1131+293delinsCTCCCTTT	NP_001352064.1:n.1131+286_1131+293delinsCTCCCTTT
NR_027400.3:n.1216+326_1216+333delinsCTCCCTTT
NR_134502.2:n.564-734_564-727delinsCTCCCTTT