Canonical Allele Identifier: CA2790302513

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392364_6392365insTTTTTTTTTC , CM000673.2:g.6392364_6392365insTTTTTTTTTC	GRCh38
NC_000011.9:g.6413594_6413595insTTTTTTTTTC , CM000673.1:g.6413594_6413595insTTTTTTTTTC	GRCh37
NC_000011.8:g.6370170_6370171insTTTTTTTTTC	NCBI36
NG_011780.1:g.6940_6941insTTTTTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+208_1091+209insTTTTTTTTTC MANE Select	ENSP00000340409.4:n.1091+208_1091+209insTTTTTTTTTC
ENST00000342245.8:c.1091+208_1091+209insTTTTTTTTTC	ENSP00000340409.4:n.1091+208_1091+209insTTTTTTTTTC
ENST00000526280.1:c.320+168_320+169insTTTTTTTTTC
ENST00000527275.5:c.1088+208_1088+209insTTTTTTTTTC	ENSP00000435350.1:n.1088+208_1088+209insTTTTTTTTTC
ENST00000531303.5:c.439-852_439-851insTTTTTTTTTC	ENSP00000432625.1:n.439-852_439-851insTTTTTTTTTC
ENST00000533123.5:c.1091+208_1091+209insTTTTTTTTTC	ENSP00000435950.1:n.1091+208_1091+209insTTTTTTTTTC
ENST00000534405.5:c.1131+168_1131+169insTTTTTTTTTC	ENSP00000434353.1:n.1131+168_1131+169insTTTTTTTTTC
NM_000543.4:c.1091+208_1091+209insTTTTTTTTTC	NP_000534.3:n.1091+208_1091+209insTTTTTTTTTC
NM_001007593.2:c.1088+208_1088+209insTTTTTTTTTC	NP_001007594.2:n.1088+208_1088+209insTTTTTTTTTC
XM_005253075.3:c.1091+208_1091+209insTTTTTTTTTC	XP_005253132.1:n.1091+208_1091+209insTTTTTTTTTC
XM_011520303.1:c.1131+168_1131+169insTTTTTTTTTC	XP_011518605.1:n.1131+168_1131+169insTTTTTTTTTC
XM_011520304.1:c.1131+168_1131+169insTTTTTTTTTC	XP_011518606.1:n.1131+168_1131+169insTTTTTTTTTC
XR_930886.1:n.1429+168_1429+169insTTTTTTTTTC
NM_001318087.1:c.1091+208_1091+209insTTTTTTTTTC	NP_001305016.1:n.1091+208_1091+209insTTTTTTTTTC
NM_001318088.1:c.170+168_170+169insTTTTTTTTTC	NP_001305017.1:n.170+168_170+169insTTTTTTTTTC
NM_001365135.1:c.1131+168_1131+169insTTTTTTTTTC	NP_001352064.1:n.1131+168_1131+169insTTTTTTTTTC
NR_027400.2:n.1276+208_1276+209insTTTTTTTTTC
NR_134502.1:n.624-852_624-851insTTTTTTTTTC
XM_011520304.2:c.1131+168_1131+169insTTTTTTTTTC	XP_011518606.1:n.1131+168_1131+169insTTTTTTTTTC
XR_001747940.2:n.1256+168_1256+169insTTTTTTTTTC
XR_002957158.1:n.1256+168_1256+169insTTTTTTTTTC
NM_000543.5:c.1091+208_1091+209insTTTTTTTTTC MANE Select	NP_000534.3:n.1091+208_1091+209insTTTTTTTTTC
NM_001007593.3:c.1088+208_1088+209insTTTTTTTTTC	NP_001007594.2:n.1088+208_1088+209insTTTTTTTTTC
NM_001318087.2:c.1091+208_1091+209insTTTTTTTTTC	NP_001305016.1:n.1091+208_1091+209insTTTTTTTTTC
NM_001318088.2:c.170+168_170+169insTTTTTTTTTC	NP_001305017.1:n.170+168_170+169insTTTTTTTTTC
NM_001365135.2:c.1131+168_1131+169insTTTTTTTTTC	NP_001352064.1:n.1131+168_1131+169insTTTTTTTTTC
NR_027400.3:n.1216+208_1216+209insTTTTTTTTTC
NR_134502.2:n.564-852_564-851insTTTTTTTTTC