Canonical Allele Identifier: CA2590998086

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392519-A-ATTTTT
• gnomAD v4: 11-6392519-A-ATTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392520_6392521insTTTTT , CM000673.2:g.6392520_6392521insTTTTT	GRCh38
NC_000011.9:g.6413750_6413751insTTTTT , CM000673.1:g.6413750_6413751insTTTTT	GRCh37
NC_000011.8:g.6370326_6370327insTTTTT	NCBI36
NG_011780.1:g.7096_7097insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+364_1091+365insTTTTT MANE Select	ENSP00000340409.4:n.1091+364_1091+365insTTTTT
ENST00000342245.8:c.1091+364_1091+365insTTTTT	ENSP00000340409.4:n.1091+364_1091+365insTTTTT
ENST00000526280.1:c.320+324_320+325insTTTTT
ENST00000527275.5:c.1088+364_1088+365insTTTTT	ENSP00000435350.1:n.1088+364_1088+365insTTTTT
ENST00000531303.5:c.439-696_439-695insTTTTT	ENSP00000432625.1:n.439-696_439-695insTTTTT
ENST00000533123.5:c.1091+364_1091+365insTTTTT	ENSP00000435950.1:n.1091+364_1091+365insTTTTT
ENST00000534405.5:c.1131+324_1131+325insTTTTT	ENSP00000434353.1:n.1131+324_1131+325insTTTTT
NM_000543.4:c.1091+364_1091+365insTTTTT	NP_000534.3:n.1091+364_1091+365insTTTTT
NM_001007593.2:c.1088+364_1088+365insTTTTT	NP_001007594.2:n.1088+364_1088+365insTTTTT
XM_005253075.3:c.1091+364_1091+365insTTTTT	XP_005253132.1:n.1091+364_1091+365insTTTTT
XM_011520303.1:c.1131+324_1131+325insTTTTT	XP_011518605.1:n.1131+324_1131+325insTTTTT
XM_011520304.1:c.1131+324_1131+325insTTTTT	XP_011518606.1:n.1131+324_1131+325insTTTTT
XR_930886.1:n.1429+324_1429+325insTTTTT
NM_001318087.1:c.1091+364_1091+365insTTTTT	NP_001305016.1:n.1091+364_1091+365insTTTTT
NM_001318088.1:c.170+324_170+325insTTTTT	NP_001305017.1:n.170+324_170+325insTTTTT
NM_001365135.1:c.1131+324_1131+325insTTTTT	NP_001352064.1:n.1131+324_1131+325insTTTTT
NR_027400.2:n.1276+364_1276+365insTTTTT
NR_134502.1:n.624-696_624-695insTTTTT
XM_011520304.2:c.1131+324_1131+325insTTTTT	XP_011518606.1:n.1131+324_1131+325insTTTTT
XR_001747940.2:n.1256+324_1256+325insTTTTT
XR_002957158.1:n.1256+324_1256+325insTTTTT
NM_000543.5:c.1091+364_1091+365insTTTTT MANE Select	NP_000534.3:n.1091+364_1091+365insTTTTT
NM_001007593.3:c.1088+364_1088+365insTTTTT	NP_001007594.2:n.1088+364_1088+365insTTTTT
NM_001318087.2:c.1091+364_1091+365insTTTTT	NP_001305016.1:n.1091+364_1091+365insTTTTT
NM_001318088.2:c.170+324_170+325insTTTTT	NP_001305017.1:n.170+324_170+325insTTTTT
NM_001365135.2:c.1131+324_1131+325insTTTTT	NP_001352064.1:n.1131+324_1131+325insTTTTT
NR_027400.3:n.1216+364_1216+365insTTTTT
NR_134502.2:n.564-696_564-695insTTTTT