Canonical Allele Identifier: CA934768430

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392516-G-GTTTTTTTTTTTTTTTTTTTTC
• gnomAD v4: 11-6392516-G-GTTTTTTTTTTTTTTTTTTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392516_6392517insTTTTTTTTTTTTTTTTTTTTC , CM000673.2:g.6392516_6392517insTTTTTTTTTTTTTTTTTTTTC	GRCh38
NC_000011.9:g.6413746_6413747insTTTTTTTTTTTTTTTTTTTTC , CM000673.1:g.6413746_6413747insTTTTTTTTTTTTTTTTTTTTC	GRCh37
NC_000011.8:g.6370322_6370323insTTTTTTTTTTTTTTTTTTTTC	NCBI36
NG_011780.1:g.7092_7093insTTTTTTTTTTTTTTTTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC MANE Select	ENSP00000340409.4:n.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC...
ENST00000342245.8:c.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC	ENSP00000340409.4:n.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC...
ENST00000526280.1:c.320+320_320+321insTTTTTTTTTTTTTTTTTTTTC
ENST00000527275.5:c.1088+360_1088+361insTTTTTTTTTTTTTTTTTTTTC	ENSP00000435350.1:n.1088+360_1088+361insTTTTTTTTTTTTTTTTTTTTC...
ENST00000531303.5:c.439-700_439-699insTTTTTTTTTTTTTTTTTTTTC	ENSP00000432625.1:n.439-700_439-699insTTTTTTTTTTTTTTTTTTTTC
ENST00000533123.5:c.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC	ENSP00000435950.1:n.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC...
ENST00000534405.5:c.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC	ENSP00000434353.1:n.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC...
NM_000543.4:c.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC	NP_000534.3:n.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC
NM_001007593.2:c.1088+360_1088+361insTTTTTTTTTTTTTTTTTTTTC	NP_001007594.2:n.1088+360_1088+361insTTTTTTTTTTTTTTTTTTTTC
XM_005253075.3:c.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC	XP_005253132.1:n.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC
XM_011520303.1:c.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC	XP_011518605.1:n.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC
XM_011520304.1:c.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC	XP_011518606.1:n.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC
XR_930886.1:n.1429+320_1429+321insTTTTTTTTTTTTTTTTTTTTC
NM_001318087.1:c.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC	NP_001305016.1:n.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC
NM_001318088.1:c.170+320_170+321insTTTTTTTTTTTTTTTTTTTTC	NP_001305017.1:n.170+320_170+321insTTTTTTTTTTTTTTTTTTTTC
NM_001365135.1:c.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC	NP_001352064.1:n.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC
NR_027400.2:n.1276+360_1276+361insTTTTTTTTTTTTTTTTTTTTC
NR_134502.1:n.624-700_624-699insTTTTTTTTTTTTTTTTTTTTC
XM_011520304.2:c.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC	XP_011518606.1:n.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC
XR_001747940.2:n.1256+320_1256+321insTTTTTTTTTTTTTTTTTTTTC
XR_002957158.1:n.1256+320_1256+321insTTTTTTTTTTTTTTTTTTTTC
NM_000543.5:c.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC MANE Select	NP_000534.3:n.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC
NM_001007593.3:c.1088+360_1088+361insTTTTTTTTTTTTTTTTTTTTC	NP_001007594.2:n.1088+360_1088+361insTTTTTTTTTTTTTTTTTTTTC
NM_001318087.2:c.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC	NP_001305016.1:n.1091+360_1091+361insTTTTTTTTTTTTTTTTTTTTC
NM_001318088.2:c.170+320_170+321insTTTTTTTTTTTTTTTTTTTTC	NP_001305017.1:n.170+320_170+321insTTTTTTTTTTTTTTTTTTTTC
NM_001365135.2:c.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC	NP_001352064.1:n.1131+320_1131+321insTTTTTTTTTTTTTTTTTTTTC
NR_027400.3:n.1216+360_1216+361insTTTTTTTTTTTTTTTTTTTTC
NR_134502.2:n.564-700_564-699insTTTTTTTTTTTTTTTTTTTTC