Canonical Allele Identifier: CA589164559

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92112506_92112508del , CM000671.2:g.92112506_92112508del	GRCh38
NC_000009.11:g.94874788_94874790del , CM000671.1:g.94874788_94874790del	GRCh37
NC_000009.10:g.93914609_93914611del	NCBI36
NG_007950.1:g.7904_7906del , LRG_272:g.7904_7906del

Transcript Alleles

HGVS	Amino-acid Change
NM_006415.4:c.115_117del MANE Select	NP_006406.1:p.Leu39del
ENST00000262554.7:c.115_117del MANE Select	ENSP00000262554.2:p.Leu39del
NM_001281303.1:c.115_117del	NP_001268232.1:p.Leu39del
NM_001281303.2:c.115_117del	NP_001268232.1:p.Leu39del
NM_001368272.1:c.-385_-383del	NP_001355201.1:n.-385_-383del
NM_001368273.1:c.-351_-349del	NP_001355202.1:n.-351_-349del
NM_006415.3:c.115_117del	NP_006406.1:p.Leu39del
NM_178324.2:c.115_117del	NP_847894.1:p.Leu39del
NM_178324.3:c.115_117del	NP_847894.1:p.Leu39del
ENST00000262554.6:c.115_117del	ENSP00000262554.2:p.Leu39del
ENST00000337841.4:c.115_117del	ENSP00000337635.4:p.Leu39del
ENST00000461132.1:n.83_85del
ENST00000461132.2:c.115_117del	ENSP00000509096.1:p.Leu39del
ENST00000482632.5:n.129_131del
ENST00000482632.6:n.525_527del
ENST00000488921.5:n.272_274del
ENST00000488921.6:c.*131_*133del	ENSP00000510034.1:n.*131_*133del
ENST00000644140.1:c.115_117del	ENSP00000493933.1:p.Leu39del
ENST00000646534.1:c.115_117del	ENSP00000495388.1:p.Leu39del
ENST00000686600.1:c.115_117del	ENSP00000509268.1:p.Leu39del
ENST00000686799.1:n.212_214del
ENST00000687427.1:c.115_117del	ENSP00000509426.1:p.Leu39del
ENST00000687817.1:c.115_117del	ENSP00000508926.1:p.Leu39del
ENST00000687972.1:c.115_117del	ENSP00000509208.1:p.Leu39del
ENST00000689401.1:c.*131_*133del	ENSP00000510251.1:n.*131_*133del
ENST00000689423.1:c.*131_*133del	ENSP00000508519.1:n.*131_*133del
ENST00000690139.1:c.115_117del	ENSP00000510483.1:p.Leu39del
ENST00000692363.1:c.115_117del	ENSP00000509481.1:p.Leu39del
ENST00000692458.1:n.138_140del
ENST00000693147.1:c.*131_*133del	ENSP00000510358.1:n.*131_*133del
XM_011518138.1:c.115_117del	XP_011516440.1:p.Leu39del
XM_011518138.2:c.115_117del	XP_011516440.1:p.Leu39del
XM_011518139.1:c.-351_-349del	XP_011516441.1:n.-351_-349del
XM_011518139.3:c.-351_-349del	XP_011516441.1:n.-351_-349del
XM_017014200.2:c.-385_-383del	XP_016869689.1:n.-385_-383del
XM_017014201.2:c.-385_-383del	XP_016869690.1:n.-385_-383del
XR_002956744.1:n.132_134del