Canonical Allele Identifier: CA2532077531

Gene: SPTLC2

Linked Data

• gnomAD v4: 14-77517923-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517926_77517927del , CM000676.2:g.77517926_77517927del	GRCh38
NC_000014.8:g.77984269_77984270del , CM000676.1:g.77984269_77984270del	GRCh37
NC_000014.7:g.77054022_77054023del	NCBI36
NG_028282.1:g.103843_103844del , LRG_371:g.103843_103844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+113_601+114del
ENST00000687688.1:n.1332+113_1332+114del
ENST00000692906.1:n.1301+113_1301+114del
ENST00000216484.7:c.1569+113_1569+114del MANE Select	ENSP00000216484.2:n.1569+113_1569+114del
ENST00000216484.6:c.1569+113_1569+114del	ENSP00000216484.2:n.1569+113_1569+114del
ENST00000556607.1:c.397+113_397+114del	ENSP00000451029.1:n.397+113_397+114del
NM_004863.3:c.1569+113_1569+114del , LRG_371t1:c.1569+113_1569+114del	NP_004854.1:n.1569+113_1569+114del
NM_004863.4:c.1569+113_1569+114del MANE Select	NP_004854.1:n.1569+113_1569+114del