Canonical Allele Identifier: CA2612222558

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392329-C-CATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392329_6392330insATTTT , CM000673.2:g.6392329_6392330insATTTT	GRCh38
NC_000011.9:g.6413559_6413560insATTTT , CM000673.1:g.6413559_6413560insATTTT	GRCh37
NC_000011.8:g.6370135_6370136insATTTT	NCBI36
NG_011780.1:g.6905_6906insATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+173_1091+174insATTTT MANE Select	ENSP00000340409.4:n.1091+173_1091+174insATTTT
ENST00000342245.8:c.1091+173_1091+174insATTTT	ENSP00000340409.4:n.1091+173_1091+174insATTTT
ENST00000526280.1:c.320+133_320+134insATTTT
ENST00000527275.5:c.1088+173_1088+174insATTTT	ENSP00000435350.1:n.1088+173_1088+174insATTTT
ENST00000531303.5:c.438+826_438+827insATTTT	ENSP00000432625.1:n.438+826_438+827insATTTT
ENST00000533123.5:c.1091+173_1091+174insATTTT	ENSP00000435950.1:n.1091+173_1091+174insATTTT
ENST00000534405.5:c.1131+133_1131+134insATTTT	ENSP00000434353.1:n.1131+133_1131+134insATTTT
NM_000543.4:c.1091+173_1091+174insATTTT	NP_000534.3:n.1091+173_1091+174insATTTT
NM_001007593.2:c.1088+173_1088+174insATTTT	NP_001007594.2:n.1088+173_1088+174insATTTT
XM_005253075.3:c.1091+173_1091+174insATTTT	XP_005253132.1:n.1091+173_1091+174insATTTT
XM_011520303.1:c.1131+133_1131+134insATTTT	XP_011518605.1:n.1131+133_1131+134insATTTT
XM_011520304.1:c.1131+133_1131+134insATTTT	XP_011518606.1:n.1131+133_1131+134insATTTT
XR_930886.1:n.1429+133_1429+134insATTTT
NM_001318087.1:c.1091+173_1091+174insATTTT	NP_001305016.1:n.1091+173_1091+174insATTTT
NM_001318088.1:c.170+133_170+134insATTTT	NP_001305017.1:n.170+133_170+134insATTTT
NM_001365135.1:c.1131+133_1131+134insATTTT	NP_001352064.1:n.1131+133_1131+134insATTTT
NR_027400.2:n.1276+173_1276+174insATTTT
NR_134502.1:n.623+826_623+827insATTTT
XM_011520304.2:c.1131+133_1131+134insATTTT	XP_011518606.1:n.1131+133_1131+134insATTTT
XR_001747940.2:n.1256+133_1256+134insATTTT
XR_002957158.1:n.1256+133_1256+134insATTTT
NM_000543.5:c.1091+173_1091+174insATTTT MANE Select	NP_000534.3:n.1091+173_1091+174insATTTT
NM_001007593.3:c.1088+173_1088+174insATTTT	NP_001007594.2:n.1088+173_1088+174insATTTT
NM_001318087.2:c.1091+173_1091+174insATTTT	NP_001305016.1:n.1091+173_1091+174insATTTT
NM_001318088.2:c.170+133_170+134insATTTT	NP_001305017.1:n.170+133_170+134insATTTT
NM_001365135.2:c.1131+133_1131+134insATTTT	NP_001352064.1:n.1131+133_1131+134insATTTT
NR_027400.3:n.1216+173_1216+174insATTTT
NR_134502.2:n.563+826_563+827insATTTT