Canonical Allele Identifier: CA2612222561
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392350_6392351insGTTTAGTTTTTGTTGTGACATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.6392350_6392351insGTTTAGTTTTTGTTGTGACATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh38
NC_000011.9:g.6413580_6413581insGTTTAGTTTTTGTTGTGACATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.6413580_6413581insGTTTAGTTTTTGTTGTGACATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh37
NC_000011.8:g.6370156_6370157insGTTTAGTTTTTGTTGTGACATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NCBI36
NG_011780.1:g.6926_6927insGTTTAGTTTTTGTTGTGACATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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