Canonical Allele Identifier: CA2790302540

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392489_6392490insG , CM000673.2:g.6392489_6392490insG	GRCh38
NC_000011.9:g.6413719_6413720insG , CM000673.1:g.6413719_6413720insG	GRCh37
NC_000011.8:g.6370295_6370296insG	NCBI36
NG_011780.1:g.7065_7066insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+333_1091+334insG MANE Select	ENSP00000340409.4:n.1091+333_1091+334insG
ENST00000342245.8:c.1091+333_1091+334insG	ENSP00000340409.4:n.1091+333_1091+334insG
ENST00000526280.1:c.320+293_320+294insG
ENST00000527275.5:c.1088+333_1088+334insG	ENSP00000435350.1:n.1088+333_1088+334insG
ENST00000531303.5:c.439-727_439-726insG	ENSP00000432625.1:n.439-727_439-726insG
ENST00000533123.5:c.1091+333_1091+334insG	ENSP00000435950.1:n.1091+333_1091+334insG
ENST00000534405.5:c.1131+293_1131+294insG	ENSP00000434353.1:n.1131+293_1131+294insG
NM_000543.4:c.1091+333_1091+334insG	NP_000534.3:n.1091+333_1091+334insG
NM_001007593.2:c.1088+333_1088+334insG	NP_001007594.2:n.1088+333_1088+334insG
XM_005253075.3:c.1091+333_1091+334insG	XP_005253132.1:n.1091+333_1091+334insG
XM_011520303.1:c.1131+293_1131+294insG	XP_011518605.1:n.1131+293_1131+294insG
XM_011520304.1:c.1131+293_1131+294insG	XP_011518606.1:n.1131+293_1131+294insG
XR_930886.1:n.1429+293_1429+294insG
NM_001318087.1:c.1091+333_1091+334insG	NP_001305016.1:n.1091+333_1091+334insG
NM_001318088.1:c.170+293_170+294insG	NP_001305017.1:n.170+293_170+294insG
NM_001365135.1:c.1131+293_1131+294insG	NP_001352064.1:n.1131+293_1131+294insG
NR_027400.2:n.1276+333_1276+334insG
NR_134502.1:n.624-727_624-726insG
XM_011520304.2:c.1131+293_1131+294insG	XP_011518606.1:n.1131+293_1131+294insG
XR_001747940.2:n.1256+293_1256+294insG
XR_002957158.1:n.1256+293_1256+294insG
NM_000543.5:c.1091+333_1091+334insG MANE Select	NP_000534.3:n.1091+333_1091+334insG
NM_001007593.3:c.1088+333_1088+334insG	NP_001007594.2:n.1088+333_1088+334insG
NM_001318087.2:c.1091+333_1091+334insG	NP_001305016.1:n.1091+333_1091+334insG
NM_001318088.2:c.170+293_170+294insG	NP_001305017.1:n.170+293_170+294insG
NM_001365135.2:c.1131+293_1131+294insG	NP_001352064.1:n.1131+293_1131+294insG
NR_027400.3:n.1216+333_1216+334insG
NR_134502.2:n.564-727_564-726insG