Canonical Allele Identifier: CA2830552977

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518296_77518298del , CM000676.2:g.77518296_77518298del	GRCh38
NC_000014.8:g.77984639_77984641del , CM000676.1:g.77984639_77984641del	GRCh37
NC_000014.7:g.77054392_77054394del	NCBI36
NG_028282.1:g.103470_103472del , LRG_371:g.103470_103472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.472-131_472-129del
ENST00000687688.1:n.1203-131_1203-129del
ENST00000692906.1:n.1172-131_1172-129del
ENST00000216484.7:c.1440-131_1440-129del MANE Select	ENSP00000216484.2:n.1440-131_1440-129del
ENST00000216484.6:c.1440-131_1440-129del	ENSP00000216484.2:n.1440-131_1440-129del
ENST00000556607.1:c.268-131_268-129del	ENSP00000451029.1:n.268-131_268-129del
NM_004863.3:c.1440-131_1440-129del , LRG_371t1:c.1440-131_1440-129del	NP_004854.1:n.1440-131_1440-129del
NM_004863.4:c.1440-131_1440-129del MANE Select	NP_004854.1:n.1440-131_1440-129del