Canonical Allele Identifier: CA2148430641

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517919_77517920delinsAC , CM000676.2:g.77517919_77517920delinsAC	GRCh38
NC_000014.8:g.77984262_77984263delinsAC , CM000676.1:g.77984262_77984263delinsAC	GRCh37
NC_000014.7:g.77054015_77054016delinsAC	NCBI36
NG_028282.1:g.103848_103849delinsGT , LRG_371:g.103848_103849delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+118_601+119delinsGT
ENST00000687688.1:n.1332+118_1332+119delinsGT
ENST00000692906.1:n.1301+118_1301+119delinsGT
ENST00000216484.7:c.1569+118_1569+119delinsGT MANE Select	ENSP00000216484.2:n.1569+118_1569+119delinsGT
ENST00000216484.6:c.1569+118_1569+119delinsGT	ENSP00000216484.2:n.1569+118_1569+119delinsGT
ENST00000556607.1:c.397+118_397+119delinsGT	ENSP00000451029.1:n.397+118_397+119delinsGT
NM_004863.3:c.1569+118_1569+119delinsGT , LRG_371t1:c.1569+118_1569+119delinsGT	NP_004854.1:n.1569+118_1569+119delinsGT
NM_004863.4:c.1569+118_1569+119delinsGT MANE Select	NP_004854.1:n.1569+118_1569+119delinsGT