Canonical Allele Identifier: CA2148430858

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518206_77518207delinsGA , CM000676.2:g.77518206_77518207delinsGA	GRCh38
NC_000014.8:g.77984549_77984550delinsGA , CM000676.1:g.77984549_77984550delinsGA	GRCh37
NC_000014.7:g.77054302_77054303delinsGA	NCBI36
NG_028282.1:g.103561_103562delinsTC , LRG_371:g.103561_103562delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.472-40_472-39delinsTC
ENST00000687688.1:n.1203-40_1203-39delinsTC
ENST00000692906.1:n.1172-40_1172-39delinsTC
ENST00000216484.7:c.1440-40_1440-39delinsTC MANE Select	ENSP00000216484.2:n.1440-40_1440-39delinsTC
ENST00000216484.6:c.1440-40_1440-39delinsTC	ENSP00000216484.2:n.1440-40_1440-39delinsTC
ENST00000556607.1:c.268-40_268-39delinsTC	ENSP00000451029.1:n.268-40_268-39delinsTC
NM_004863.3:c.1440-40_1440-39delinsTC , LRG_371t1:c.1440-40_1440-39delinsTC	NP_004854.1:n.1440-40_1440-39delinsTC
NM_004863.4:c.1440-40_1440-39delinsTC MANE Select	NP_004854.1:n.1440-40_1440-39delinsTC