Canonical Allele Identifier: CA934768391

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392515-TGAG-T
• gnomAD v4: 11-6392515-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392516_6392518del , CM000673.2:g.6392516_6392518del	GRCh38
NC_000011.9:g.6413746_6413748del , CM000673.1:g.6413746_6413748del	GRCh37
NC_000011.8:g.6370322_6370324del	NCBI36
NG_011780.1:g.7092_7094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+360_1091+362del MANE Select	ENSP00000340409.4:n.1091+360_1091+362del
ENST00000342245.8:c.1091+360_1091+362del	ENSP00000340409.4:n.1091+360_1091+362del
ENST00000526280.1:c.320+320_320+322del
ENST00000527275.5:c.1088+360_1088+362del	ENSP00000435350.1:n.1088+360_1088+362del
ENST00000531303.5:c.439-700_439-698del	ENSP00000432625.1:n.439-700_439-698del
ENST00000533123.5:c.1091+360_1091+362del	ENSP00000435950.1:n.1091+360_1091+362del
ENST00000534405.5:c.1131+320_1131+322del	ENSP00000434353.1:n.1131+320_1131+322del
NM_000543.4:c.1091+360_1091+362del	NP_000534.3:n.1091+360_1091+362del
NM_001007593.2:c.1088+360_1088+362del	NP_001007594.2:n.1088+360_1088+362del
XM_005253075.3:c.1091+360_1091+362del	XP_005253132.1:n.1091+360_1091+362del
XM_011520303.1:c.1131+320_1131+322del	XP_011518605.1:n.1131+320_1131+322del
XM_011520304.1:c.1131+320_1131+322del	XP_011518606.1:n.1131+320_1131+322del
XR_930886.1:n.1429+320_1429+322del
NM_001318087.1:c.1091+360_1091+362del	NP_001305016.1:n.1091+360_1091+362del
NM_001318088.1:c.170+320_170+322del	NP_001305017.1:n.170+320_170+322del
NM_001365135.1:c.1131+320_1131+322del	NP_001352064.1:n.1131+320_1131+322del
NR_027400.2:n.1276+360_1276+362del
NR_134502.1:n.624-700_624-698del
XM_011520304.2:c.1131+320_1131+322del	XP_011518606.1:n.1131+320_1131+322del
XR_001747940.2:n.1256+320_1256+322del
XR_002957158.1:n.1256+320_1256+322del
NM_000543.5:c.1091+360_1091+362del MANE Select	NP_000534.3:n.1091+360_1091+362del
NM_001007593.3:c.1088+360_1088+362del	NP_001007594.2:n.1088+360_1088+362del
NM_001318087.2:c.1091+360_1091+362del	NP_001305016.1:n.1091+360_1091+362del
NM_001318088.2:c.170+320_170+322del	NP_001305017.1:n.170+320_170+322del
NM_001365135.2:c.1131+320_1131+322del	NP_001352064.1:n.1131+320_1131+322del
NR_027400.3:n.1216+360_1216+362del
NR_134502.2:n.564-700_564-698del