Canonical Allele Identifier: CA2802247586

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517965_77517967del , CM000676.2:g.77517965_77517967del	GRCh38
NC_000014.8:g.77984308_77984310del , CM000676.1:g.77984308_77984310del	GRCh37
NC_000014.7:g.77054061_77054063del	NCBI36
NG_028282.1:g.103804_103806del , LRG_371:g.103804_103806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+74_601+76del
ENST00000687688.1:n.1332+74_1332+76del
ENST00000692906.1:n.1301+74_1301+76del
ENST00000216484.7:c.1569+74_1569+76del MANE Select	ENSP00000216484.2:n.1569+74_1569+76del
ENST00000216484.6:c.1569+74_1569+76del	ENSP00000216484.2:n.1569+74_1569+76del
ENST00000556607.1:c.397+74_397+76del	ENSP00000451029.1:n.397+74_397+76del
NM_004863.3:c.1569+74_1569+76del , LRG_371t1:c.1569+74_1569+76del	NP_004854.1:n.1569+74_1569+76del
NM_004863.4:c.1569+74_1569+76del MANE Select	NP_004854.1:n.1569+74_1569+76del