Canonical Allele Identifier: CA2840484249

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867672del , CM000685.2:g.152867672del	GRCh38
NC_000023.10:g.152036216del , CM000685.1:g.152036216del	GRCh37
NC_000023.9:g.151786872del	NCBI36
NG_009163.1:g.41706del
NG_009163.2:g.41706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.788del MANE Select	ENSP00000359297.3:p.Lys263ArgfsTer21
ENST00000370274.7:c.788del	ENSP00000359297.3:p.Lys263ArgfsTer21
ENST00000440023.5:c.788del	ENSP00000391854.1:p.Lys263ArgfsTer21
NM_001129765.1:c.788del	NP_001123237.1:p.Lys263ArgfsTer21
NM_015922.2:c.788del	NP_057006.1:p.Lys263ArgfsTer21
XM_011531178.1:c.788del	XP_011529480.1:p.Lys263ArgfsTer21
XM_011531178.2:c.788del	XP_011529480.1:p.Lys263ArgfsTer21
XM_017029564.1:c.836del	XP_016885053.1:p.Lys279ArgfsTer21
NM_015922.3:c.788del MANE Select	NP_057006.1:p.Lys263ArgfsTer21
NM_001129765.2:c.788del	NP_001123237.1:p.Lys263ArgfsTer21