Canonical Allele Identifier: CA1864091489

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92112502_92112505delinsAAAG , CM000671.2:g.92112502_92112505delinsAAAG	GRCh38
NC_000009.11:g.94874784_94874787delinsAAAG , CM000671.1:g.94874784_94874787delinsAAAG	GRCh37
NC_000009.10:g.93914605_93914608delinsAAAG	NCBI36
NG_007950.1:g.7904_7907delinsCTTT , LRG_272:g.7904_7907delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461132.2:c.115_118delinsCTTT	ENSP00000509096.1:p.Leu39=
ENST00000482632.6:n.525_528delinsCTTT
ENST00000488921.6:c.*131_*134delinsCTTT	ENSP00000510034.1:n.*131_*134delinsCTTT
ENST00000686600.1:c.115_118delinsCTTT	ENSP00000509268.1:p.Leu39=
ENST00000686799.1:n.212_215delinsCTTT
ENST00000687427.1:c.115_118delinsCTTT	ENSP00000509426.1:p.Leu39=
ENST00000687817.1:c.115_118delinsCTTT	ENSP00000508926.1:p.Leu39=
ENST00000687972.1:c.115_118delinsCTTT	ENSP00000509208.1:p.Leu39=
ENST00000689401.1:c.*131_*134delinsCTTT	ENSP00000510251.1:n.*131_*134delinsCTTT
ENST00000689423.1:c.*131_*134delinsCTTT	ENSP00000508519.1:n.*131_*134delinsCTTT
ENST00000690139.1:c.115_118delinsCTTT	ENSP00000510483.1:p.Leu39=
ENST00000692363.1:c.115_118delinsCTTT	ENSP00000509481.1:p.Leu39=
ENST00000692458.1:n.138_141delinsCTTT
ENST00000693147.1:c.*131_*134delinsCTTT	ENSP00000510358.1:n.*131_*134delinsCTTT
ENST00000262554.7:c.115_118delinsCTTT MANE Select	ENSP00000262554.2:p.Leu39=
ENST00000644140.1:c.115_118delinsCTTT	ENSP00000493933.1:p.Leu39=
ENST00000646534.1:c.115_118delinsCTTT	ENSP00000495388.1:p.Leu39=
ENST00000262554.6:c.115_118delinsCTTT	ENSP00000262554.2:p.Leu39=
ENST00000337841.4:c.115_118delinsCTTT	ENSP00000337635.4:p.Leu39=
ENST00000461132.1:n.83_86delinsCTTT
ENST00000482632.5:n.129_132delinsCTTT
ENST00000488921.5:n.272_275delinsCTTT
NM_001281303.1:c.115_118delinsCTTT	NP_001268232.1:p.Leu39=
NM_006415.3:c.115_118delinsCTTT	NP_006406.1:p.Leu39=
NM_178324.2:c.115_118delinsCTTT	NP_847894.1:p.Leu39=
XM_011518138.1:c.115_118delinsCTTT	XP_011516440.1:p.Leu39=
XM_011518139.1:c.-351_-348delinsCTTT	XP_011516441.1:n.-351_-348delinsCTTT
XM_011518138.2:c.115_118delinsCTTT	XP_011516440.1:p.Leu39=
XM_011518139.3:c.-351_-348delinsCTTT	XP_011516441.1:n.-351_-348delinsCTTT
XM_017014200.2:c.-385_-382delinsCTTT	XP_016869689.1:n.-385_-382delinsCTTT
XM_017014201.2:c.-385_-382delinsCTTT	XP_016869690.1:n.-385_-382delinsCTTT
XR_002956744.1:n.132_135delinsCTTT
NM_006415.4:c.115_118delinsCTTT MANE Select	NP_006406.1:p.Leu39=
NM_001281303.2:c.115_118delinsCTTT	NP_001268232.1:p.Leu39=
NM_001368272.1:c.-385_-382delinsCTTT	NP_001355201.1:n.-385_-382delinsCTTT
NM_001368273.1:c.-351_-348delinsCTTT	NP_001355202.1:n.-351_-348delinsCTTT
NM_178324.3:c.115_118delinsCTTT	NP_847894.1:p.Leu39=