Canonical Allele Identifier: CA934768461

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392520-TGGAATC-T
• gnomAD v4: 11-6392520-TGGAATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392521_6392526del , CM000673.2:g.6392521_6392526del	GRCh38
NC_000011.9:g.6413751_6413756del , CM000673.1:g.6413751_6413756del	GRCh37
NC_000011.8:g.6370327_6370332del	NCBI36
NG_011780.1:g.7097_7102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+365_1091+370del MANE Select	ENSP00000340409.4:n.1091+365_1091+370del
ENST00000342245.8:c.1091+365_1091+370del	ENSP00000340409.4:n.1091+365_1091+370del
ENST00000526280.1:c.320+325_320+330del
ENST00000527275.5:c.1088+365_1088+370del	ENSP00000435350.1:n.1088+365_1088+370del
ENST00000531303.5:c.439-695_439-690del	ENSP00000432625.1:n.439-695_439-690del
ENST00000533123.5:c.1091+365_1091+370del	ENSP00000435950.1:n.1091+365_1091+370del
ENST00000534405.5:c.1131+325_1131+330del	ENSP00000434353.1:n.1131+325_1131+330del
NM_000543.4:c.1091+365_1091+370del	NP_000534.3:n.1091+365_1091+370del
NM_001007593.2:c.1088+365_1088+370del	NP_001007594.2:n.1088+365_1088+370del
XM_005253075.3:c.1091+365_1091+370del	XP_005253132.1:n.1091+365_1091+370del
XM_011520303.1:c.1131+325_1131+330del	XP_011518605.1:n.1131+325_1131+330del
XM_011520304.1:c.1131+325_1131+330del	XP_011518606.1:n.1131+325_1131+330del
XR_930886.1:n.1429+325_1429+330del
NM_001318087.1:c.1091+365_1091+370del	NP_001305016.1:n.1091+365_1091+370del
NM_001318088.1:c.170+325_170+330del	NP_001305017.1:n.170+325_170+330del
NM_001365135.1:c.1131+325_1131+330del	NP_001352064.1:n.1131+325_1131+330del
NR_027400.2:n.1276+365_1276+370del
NR_134502.1:n.624-695_624-690del
XM_011520304.2:c.1131+325_1131+330del	XP_011518606.1:n.1131+325_1131+330del
XR_001747940.2:n.1256+325_1256+330del
XR_002957158.1:n.1256+325_1256+330del
NM_000543.5:c.1091+365_1091+370del MANE Select	NP_000534.3:n.1091+365_1091+370del
NM_001007593.3:c.1088+365_1088+370del	NP_001007594.2:n.1088+365_1088+370del
NM_001318087.2:c.1091+365_1091+370del	NP_001305016.1:n.1091+365_1091+370del
NM_001318088.2:c.170+325_170+330del	NP_001305017.1:n.170+325_170+330del
NM_001365135.2:c.1131+325_1131+330del	NP_001352064.1:n.1131+325_1131+330del
NR_027400.3:n.1216+365_1216+370del
NR_134502.2:n.564-695_564-690del