Canonical Allele Identifier: CA2148430836

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77518196_77518199delinsCAGG , CM000676.2:g.77518196_77518199delinsCAGG	GRCh38
NC_000014.8:g.77984539_77984542delinsCAGG , CM000676.1:g.77984539_77984542delinsCAGG	GRCh37
NC_000014.7:g.77054292_77054295delinsCAGG	NCBI36
NG_028282.1:g.103569_103572delinsCCTG , LRG_371:g.103569_103572delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.472-32_472-29delinsCCTG
ENST00000687688.1:n.1203-32_1203-29delinsCCTG
ENST00000692906.1:n.1172-32_1172-29delinsCCTG
ENST00000216484.7:c.1440-32_1440-29delinsCCTG MANE Select	ENSP00000216484.2:n.1440-32_1440-29delinsCCTG
ENST00000216484.6:c.1440-32_1440-29delinsCCTG	ENSP00000216484.2:n.1440-32_1440-29delinsCCTG
ENST00000556607.1:c.268-32_268-29delinsCCTG	ENSP00000451029.1:n.268-32_268-29delinsCCTG
NM_004863.3:c.1440-32_1440-29delinsCCTG , LRG_371t1:c.1440-32_1440-29delinsCCTG	NP_004854.1:n.1440-32_1440-29delinsCCTG
NM_004863.4:c.1440-32_1440-29delinsCCTG MANE Select	NP_004854.1:n.1440-32_1440-29delinsCCTG