Canonical Allele Identifier: CA1864080919

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067973_92067974delinsCA , CM000671.2:g.92067973_92067974delinsCA	GRCh38
NC_000009.11:g.94830255_94830256delinsCA , CM000671.1:g.94830255_94830256delinsCA	GRCh37
NC_000009.10:g.93870076_93870077delinsCA	NCBI36
NG_007950.1:g.52435_52436delinsTG , LRG_272:g.52435_52436delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000482632.6:n.962_963delinsTG
ENST00000686600.1:c.552_553delinsTG	ENSP00000509268.1:p.Ile184=
ENST00000686799.1:n.649_650delinsTG
ENST00000687427.1:c.552_553delinsTG	ENSP00000509426.1:p.Ile184=
ENST00000687817.1:c.*355_*356delinsTG	ENSP00000508926.1:n.*355_*356delinsTG
ENST00000687972.1:c.612_613delinsTG	ENSP00000509208.1:p.Ile204=
ENST00000689261.1:n.459_460delinsTG
ENST00000689401.1:c.*802_*803delinsTG	ENSP00000510251.1:n.*802_*803delinsTG
ENST00000689423.1:c.*802_*803delinsTG	ENSP00000508519.1:n.*802_*803delinsTG
ENST00000690095.1:n.880_881delinsTG
ENST00000690139.1:c.*253_*254delinsTG	ENSP00000510483.1:n.*253_*254delinsTG
ENST00000692458.1:n.575_576delinsTG
ENST00000693147.1:c.*568_*569delinsTG	ENSP00000510358.1:n.*568_*569delinsTG
ENST00000262554.7:c.552_553delinsTG MANE Select	ENSP00000262554.2:p.Ile184=
ENST00000642671.1:c.597_598delinsTG	ENSP00000495764.1:n.597_598delinsTG
ENST00000643599.1:c.424_425delinsTG	ENSP00000494770.1:n.424_425delinsTG
ENST00000644140.1:c.*293_*294delinsTG	ENSP00000493933.1:n.*293_*294delinsTG
ENST00000646481.1:c.424_425delinsTG	ENSP00000496627.1:n.424_425delinsTG
ENST00000646534.1:c.*355_*356delinsTG	ENSP00000495388.1:n.*355_*356delinsTG
ENST00000262554.6:c.552_553delinsTG	ENSP00000262554.2:p.Ile184=
ENST00000482632.5:n.699_700delinsTG
NM_001281303.1:c.552_553delinsTG	NP_001268232.1:p.Ile184=
NM_006415.3:c.552_553delinsTG	NP_006406.1:p.Ile184=
XM_011518138.1:c.552_553delinsTG	XP_011516440.1:p.Ile184=
XM_011518139.1:c.87_88delinsTG	XP_011516441.1:p.Ile29=
XM_011518138.2:c.552_553delinsTG	XP_011516440.1:p.Ile184=
XM_011518139.3:c.87_88delinsTG	XP_011516441.1:p.Ile29=
XM_017014200.2:c.186_187delinsTG	XP_016869689.1:p.Ile62=
XM_017014201.2:c.186_187delinsTG	XP_016869690.1:p.Ile62=
XM_024447378.1:c.87_88delinsTG	XP_024303146.1:p.Ile29=
XM_024447379.1:c.87_88delinsTG	XP_024303147.1:p.Ile29=
XR_002956744.1:n.702_703delinsTG
NM_006415.4:c.552_553delinsTG MANE Select	NP_006406.1:p.Ile184=
NM_001281303.2:c.552_553delinsTG	NP_001268232.1:p.Ile184=
NM_001368272.1:c.186_187delinsTG	NP_001355201.1:p.Ile62=
NM_001368273.1:c.87_88delinsTG	NP_001355202.1:p.Ile29=