Canonical Allele Identifier: CA934767725

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392349-T-TTTGTTTTGTTTTTG
• gnomAD v4: 11-6392349-T-TTTGTTTTGTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392350_6392351insTGTTTTGTTTTTGT , CM000673.2:g.6392350_6392351insTGTTTTGTTTTTGT	GRCh38
NC_000011.9:g.6413580_6413581insTGTTTTGTTTTTGT , CM000673.1:g.6413580_6413581insTGTTTTGTTTTTGT	GRCh37
NC_000011.8:g.6370156_6370157insTGTTTTGTTTTTGT	NCBI36
NG_011780.1:g.6926_6927insTGTTTTGTTTTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+194_1091+195insTGTTTTGTTTTTGT MANE Select	ENSP00000340409.4:n.1091+194_1091+195insTGTTTTGTTTTTGT
ENST00000342245.8:c.1091+194_1091+195insTGTTTTGTTTTTGT	ENSP00000340409.4:n.1091+194_1091+195insTGTTTTGTTTTTGT
ENST00000526280.1:c.320+154_320+155insTGTTTTGTTTTTGT
ENST00000527275.5:c.1088+194_1088+195insTGTTTTGTTTTTGT	ENSP00000435350.1:n.1088+194_1088+195insTGTTTTGTTTTTGT
ENST00000531303.5:c.438+847_438+848insTGTTTTGTTTTTGT	ENSP00000432625.1:n.438+847_438+848insTGTTTTGTTTTTGT
ENST00000533123.5:c.1091+194_1091+195insTGTTTTGTTTTTGT	ENSP00000435950.1:n.1091+194_1091+195insTGTTTTGTTTTTGT
ENST00000534405.5:c.1131+154_1131+155insTGTTTTGTTTTTGT	ENSP00000434353.1:n.1131+154_1131+155insTGTTTTGTTTTTGT
NM_000543.4:c.1091+194_1091+195insTGTTTTGTTTTTGT	NP_000534.3:n.1091+194_1091+195insTGTTTTGTTTTTGT
NM_001007593.2:c.1088+194_1088+195insTGTTTTGTTTTTGT	NP_001007594.2:n.1088+194_1088+195insTGTTTTGTTTTTGT
XM_005253075.3:c.1091+194_1091+195insTGTTTTGTTTTTGT	XP_005253132.1:n.1091+194_1091+195insTGTTTTGTTTTTGT
XM_011520303.1:c.1131+154_1131+155insTGTTTTGTTTTTGT	XP_011518605.1:n.1131+154_1131+155insTGTTTTGTTTTTGT
XM_011520304.1:c.1131+154_1131+155insTGTTTTGTTTTTGT	XP_011518606.1:n.1131+154_1131+155insTGTTTTGTTTTTGT
XR_930886.1:n.1429+154_1429+155insTGTTTTGTTTTTGT
NM_001318087.1:c.1091+194_1091+195insTGTTTTGTTTTTGT	NP_001305016.1:n.1091+194_1091+195insTGTTTTGTTTTTGT
NM_001318088.1:c.170+154_170+155insTGTTTTGTTTTTGT	NP_001305017.1:n.170+154_170+155insTGTTTTGTTTTTGT
NM_001365135.1:c.1131+154_1131+155insTGTTTTGTTTTTGT	NP_001352064.1:n.1131+154_1131+155insTGTTTTGTTTTTGT
NR_027400.2:n.1276+194_1276+195insTGTTTTGTTTTTGT
NR_134502.1:n.623+847_623+848insTGTTTTGTTTTTGT
XM_011520304.2:c.1131+154_1131+155insTGTTTTGTTTTTGT	XP_011518606.1:n.1131+154_1131+155insTGTTTTGTTTTTGT
XR_001747940.2:n.1256+154_1256+155insTGTTTTGTTTTTGT
XR_002957158.1:n.1256+154_1256+155insTGTTTTGTTTTTGT
NM_000543.5:c.1091+194_1091+195insTGTTTTGTTTTTGT MANE Select	NP_000534.3:n.1091+194_1091+195insTGTTTTGTTTTTGT
NM_001007593.3:c.1088+194_1088+195insTGTTTTGTTTTTGT	NP_001007594.2:n.1088+194_1088+195insTGTTTTGTTTTTGT
NM_001318087.2:c.1091+194_1091+195insTGTTTTGTTTTTGT	NP_001305016.1:n.1091+194_1091+195insTGTTTTGTTTTTGT
NM_001318088.2:c.170+154_170+155insTGTTTTGTTTTTGT	NP_001305017.1:n.170+154_170+155insTGTTTTGTTTTTGT
NM_001365135.2:c.1131+154_1131+155insTGTTTTGTTTTTGT	NP_001352064.1:n.1131+154_1131+155insTGTTTTGTTTTTGT
NR_027400.3:n.1216+194_1216+195insTGTTTTGTTTTTGT
NR_134502.2:n.563+847_563+848insTGTTTTGTTTTTGT