Canonical Allele Identifier: CA2148430660

Gene: SPTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77517979_77517981delinsAAT , CM000676.2:g.77517979_77517981delinsAAT	GRCh38
NC_000014.8:g.77984322_77984324delinsAAT , CM000676.1:g.77984322_77984324delinsAAT	GRCh37
NC_000014.7:g.77054075_77054077delinsAAT	NCBI36
NG_028282.1:g.103787_103789delinsATT , LRG_371:g.103787_103789delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686627.1:n.601+57_601+59delinsATT
ENST00000687688.1:n.1332+57_1332+59delinsATT
ENST00000692906.1:n.1301+57_1301+59delinsATT
ENST00000216484.7:c.1569+57_1569+59delinsATT MANE Select	ENSP00000216484.2:n.1569+57_1569+59delinsATT
ENST00000216484.6:c.1569+57_1569+59delinsATT	ENSP00000216484.2:n.1569+57_1569+59delinsATT
ENST00000556607.1:c.397+57_397+59delinsATT	ENSP00000451029.1:n.397+57_397+59delinsATT
NM_004863.3:c.1569+57_1569+59delinsATT , LRG_371t1:c.1569+57_1569+59delinsATT	NP_004854.1:n.1569+57_1569+59delinsATT
NM_004863.4:c.1569+57_1569+59delinsATT MANE Select	NP_004854.1:n.1569+57_1569+59delinsATT