Canonical Allele Identifier: CA2579725464

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862631_152862632del , CM000685.2:g.152862631_152862632del	GRCh38
NC_000023.10:g.152031175_152031176del , CM000685.1:g.152031175_152031176del	GRCh37
NC_000023.9:g.151781831_151781832del	NCBI36
NG_009163.1:g.36665_36666del
NG_009163.2:g.36665_36666del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.450_451del MANE Select	ENSP00000359297.3:p.Phe150LeufsTer10
ENST00000370274.7:c.450_451del	ENSP00000359297.3:p.Phe150LeufsTer10
ENST00000432467.1:c.450_451del	ENSP00000396266.1:p.Phe150LeufsTer10
ENST00000440023.5:c.450_451del	ENSP00000391854.1:p.Phe150LeufsTer10
NM_001129765.1:c.450_451del	NP_001123237.1:p.Phe150LeufsTer10
NM_015922.2:c.450_451del	NP_057006.1:p.Phe150LeufsTer10
XM_011531178.1:c.450_451del	XP_011529480.1:p.Phe150LeufsTer10
XM_011531178.2:c.450_451del	XP_011529480.1:p.Phe150LeufsTer10
XM_017029564.1:c.498_499del	XP_016885053.1:p.Phe166LeufsTer10
NM_015922.3:c.450_451del MANE Select	NP_057006.1:p.Phe150LeufsTer10
NM_001129765.2:c.450_451del	NP_001123237.1:p.Phe150LeufsTer10