Canonical Allele Identifier: CA934767584

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392329-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTT
• gnomAD v4: 11-6392329-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392350_6392351insTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.6392350_6392351insTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.6413580_6413581insTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.6413580_6413581insTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.6370156_6370157insTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_011780.1:g.6926_6927insTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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