Canonical Allele Identifier: CA2575590015

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517977_77517978del , CM000676.2:g.77517977_77517978del	GRCh38
NC_000014.8:g.77984320_77984321del , CM000676.1:g.77984320_77984321del	GRCh37
NC_000014.7:g.77054073_77054074del	NCBI36
NG_028282.1:g.103791_103792del , LRG_371:g.103791_103792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+61_601+62del
ENST00000687688.1:n.1332+61_1332+62del
ENST00000692906.1:n.1301+61_1301+62del
ENST00000216484.7:c.1569+61_1569+62del MANE Select	ENSP00000216484.2:n.1569+61_1569+62del
ENST00000216484.6:c.1569+61_1569+62del	ENSP00000216484.2:n.1569+61_1569+62del
ENST00000556607.1:c.397+61_397+62del	ENSP00000451029.1:n.397+61_397+62del
NM_004863.3:c.1569+61_1569+62del , LRG_371t1:c.1569+61_1569+62del	NP_004854.1:n.1569+61_1569+62del
NM_004863.4:c.1569+61_1569+62del MANE Select	NP_004854.1:n.1569+61_1569+62del