Canonical Allele Identifier: CA658798680

Gene: SPNS2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4533107_4533108delinsT , CM000679.2:g.4533107_4533108delinsT	GRCh38
NC_000017.10:g.4436402_4436403delinsT , CM000679.1:g.4436402_4436403delinsT	GRCh37
NC_000017.9:g.4383151_4383152delinsT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001124758.3:c.1066_1067delinsT MANE Select	NP_001118230.1:p.Pro356CysfsTer?
ENST00000329078.8:c.1066_1067delinsT MANE Select	ENSP00000333292.3:p.Pro356CysfsTer?
NM_001124758.1:c.1066_1067delinsT	NP_001118230.1:p.Pro356CysfsTer?
NM_001124758.2:c.1066_1067delinsT	NP_001118230.1:p.Pro356CysfsTer?
ENST00000329078.7:c.1066_1067delinsT	ENSP00000333292.3:p.Pro356CysfsTer?
ENST00000571386.1:c.76_77delinsT	ENSP00000461410.1:p.Pro26CysfsTer?
XM_024450574.1:c.1066_1067delinsT	XP_024306342.1:p.Pro356CysfsTer?