Canonical Allele Identifier: CA1864080939

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067981_92067983delinsCCT , CM000671.2:g.92067981_92067983delinsCCT	GRCh38
NC_000009.11:g.94830263_94830265delinsCCT , CM000671.1:g.94830263_94830265delinsCCT	GRCh37
NC_000009.10:g.93870084_93870086delinsCCT	NCBI36
NG_007950.1:g.52426_52428delinsAGG , LRG_272:g.52426_52428delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.953_955delinsAGG
ENST00000686600.1:c.543_545delinsAGG	ENSP00000509268.1:p.Arg181=
ENST00000686799.1:n.640_642delinsAGG
ENST00000687427.1:c.543_545delinsAGG	ENSP00000509426.1:p.Arg181=
ENST00000687817.1:c.*346_*348delinsAGG	ENSP00000508926.1:n.*346_*348delinsAGG
ENST00000687972.1:c.603_605delinsAGG	ENSP00000509208.1:p.Arg201=
ENST00000689261.1:n.450_452delinsAGG
ENST00000689401.1:c.*793_*795delinsAGG	ENSP00000510251.1:n.*793_*795delinsAGG
ENST00000689423.1:c.*793_*795delinsAGG	ENSP00000508519.1:n.*793_*795delinsAGG
ENST00000690095.1:n.871_873delinsAGG
ENST00000690139.1:c.*244_*246delinsAGG	ENSP00000510483.1:n.*244_*246delinsAGG
ENST00000692458.1:n.566_568delinsAGG
ENST00000693147.1:c.*559_*561delinsAGG	ENSP00000510358.1:n.*559_*561delinsAGG
ENST00000262554.7:c.543_545delinsAGG MANE Select	ENSP00000262554.2:p.Arg181=
ENST00000642671.1:c.588_590delinsAGG	ENSP00000495764.1:n.588_590delinsAGG
ENST00000643599.1:c.415_417delinsAGG	ENSP00000494770.1:n.415_417delinsAGG
ENST00000644140.1:c.*284_*286delinsAGG	ENSP00000493933.1:n.*284_*286delinsAGG
ENST00000646481.1:c.415_417delinsAGG	ENSP00000496627.1:n.415_417delinsAGG
ENST00000646534.1:c.*346_*348delinsAGG	ENSP00000495388.1:n.*346_*348delinsAGG
ENST00000262554.6:c.543_545delinsAGG	ENSP00000262554.2:p.Arg181=
ENST00000482632.5:n.690_692delinsAGG
NM_001281303.1:c.543_545delinsAGG	NP_001268232.1:p.Arg181=
NM_006415.3:c.543_545delinsAGG	NP_006406.1:p.Arg181=
XM_011518138.1:c.543_545delinsAGG	XP_011516440.1:p.Arg181=
XM_011518139.1:c.78_80delinsAGG	XP_011516441.1:p.Arg26=
XM_011518138.2:c.543_545delinsAGG	XP_011516440.1:p.Arg181=
XM_011518139.3:c.78_80delinsAGG	XP_011516441.1:p.Arg26=
XM_017014200.2:c.177_179delinsAGG	XP_016869689.1:p.Arg59=
XM_017014201.2:c.177_179delinsAGG	XP_016869690.1:p.Arg59=
XM_024447378.1:c.78_80delinsAGG	XP_024303146.1:p.Arg26=
XM_024447379.1:c.78_80delinsAGG	XP_024303147.1:p.Arg26=
XR_002956744.1:n.693_695delinsAGG
NM_006415.4:c.543_545delinsAGG MANE Select	NP_006406.1:p.Arg181=
NM_001281303.2:c.543_545delinsAGG	NP_001268232.1:p.Arg181=
NM_001368272.1:c.177_179delinsAGG	NP_001355201.1:p.Arg59=
NM_001368273.1:c.78_80delinsAGG	NP_001355202.1:p.Arg26=