Canonical Allele Identifier: CA2582342415

Gene: SMPD4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130152708_130152725dup , CM000664.2:g.130152708_130152725dup	GRCh38
NC_000002.11:g.130910281_130910298dup , CM000664.1:g.130910281_130910298dup	GRCh37
NC_000002.10:g.130626751_130626768dup	NCBI36
NG_053070.1:g.35028_35045dup

Transcript Alleles

HGVS	Amino-acid Change
NM_017951.5:c.2316_2333dup MANE Select	NP_060421.3:p.Arg778_Thr779insPheLeuGlySerTyrArg
ENST00000680298.1:c.2316_2333dup MANE Select	ENSP00000506463.1:p.Arg778_Thr779insPheLeuGlySerTyrArg
NM_001171083.2:c.2127_2144dup	NP_001164554.1:p.Arg715_Thr716insPheLeuGlySerTyrArg
NM_017751.4:c.2346_2363dup	NP_060221.2:p.Arg788_Thr789insPheLeuGlySerTyrArg
NM_017951.4:c.2433_2450dup	NP_060421.2:p.Arg817_Thr818insPheLeuGlySerTyrArg
NR_033230.2:n.3582_3599dup
NR_033231.2:n.2446_2463dup
NR_033231.3:n.2291_2308dup
NR_033232.2:n.2426_2443dup
NR_033232.3:n.2271_2288dup
ENST00000351288.10:c.2346_2363dup	ENSP00000259217.8:p.Arg788_Thr789insPheLeuGlySerTyrArg
ENST00000409031.5:c.2433_2450dup	ENSP00000386531.1:p.Arg817_Thr818insPheLeuGlySerTyrArg
ENST00000412570.5:c.*2003_*2020dup	ENSP00000403002.1:n.*2003_*2020dup
ENST00000431183.6:c.2127_2144dup	ENSP00000405187.2:p.Arg715_Thr716insPheLeuGlySerTyrArg
ENST00000433118.5:c.*1734_*1751dup	ENSP00000397278.1:n.*1734_*1751dup
ENST00000439886.5:c.2057_2074dup
ENST00000454468.5:c.*2020_*2037dup	ENSP00000407591.1:n.*2020_*2037dup
ENST00000482171.5:n.2984_3001dup
ENST00000491128.5:n.1256_1273dup
ENST00000680401.1:c.1119_1136dup	ENSP00000506367.1:p.Arg379_Thr380insPheLeuGlySerTyrArg
ENST00000680679.1:c.2367_2384dup	ENSP00000505716.1:p.Arg795_Thr796insPheLeuGlySerTyrArg
ENST00000680810.1:c.*1078_*1095dup	ENSP00000505271.1:n.*1078_*1095dup
ENST00000680987.1:c.*1423_*1440dup	ENSP00000506346.1:n.*1423_*1440dup
XM_011511443.1:c.2667_2684dup	XP_011509745.1:p.Arg895_Thr896insPheLeuGlySerTyrArg
XM_011511443.2:c.2667_2684dup	XP_011509745.1:p.Arg895_Thr896insPheLeuGlySerTyrArg
XM_011511444.1:c.2580_2597dup	XP_011509746.1:p.Arg866_Thr867insPheLeuGlySerTyrArg
XM_011511444.3:c.2580_2597dup	XP_011509746.1:p.Arg866_Thr867insPheLeuGlySerTyrArg
XM_011511445.1:c.2040_2057dup	XP_011509747.1:p.Arg686_Thr687insPheLeuGlySerTyrArg
XM_011511445.2:c.2040_2057dup	XP_011509747.1:p.Arg686_Thr687insPheLeuGlySerTyrArg
XM_017004448.2:c.1656_1673dup	XP_016859937.1:p.Arg558_Thr559insPheLeuGlySerTyrArg
XM_017004449.2:c.1119_1136dup	XP_016859938.1:p.Arg379_Thr380insPheLeuGlySerTyrArg
XM_024452978.1:c.1656_1673dup	XP_024308746.1:p.Arg558_Thr559insPheLeuGlySerTyrArg