Canonical Allele Identifier: CA2499225160

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 1069065
• ClinVar RCV Id: RCV001380808
• dbSNP Id: rs2144169642

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46524822del , CM000680.2:g.46524822del	GRCh38
NC_000018.9:g.44104785del , CM000680.1:g.44104785del	GRCh37
NC_000018.8:g.42358783del	NCBI36
NG_016646.1:g.137213del
NG_016646.2:g.137213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.1294del	ENSP00000300591.6:p.Glu432ArgfsTer24
ENST00000579038.6:c.1006del	ENSP00000463285.1:p.Glu336ArgfsTer24
ENST00000582408.6:c.1294del	ENSP00000461964.1:p.Glu432ArgfsTer24
ENST00000642948.1:c.4627del MANE Select	ENSP00000496347.1:p.Glu1543ArgfsTer24
ENST00000300591.10:c.1294del	ENSP00000300591.6:p.Glu432ArgfsTer24
ENST00000335730.6:n.3940del
ENST00000441551.6:c.4009del	ENSP00000387621.2:p.Glu1337ArgfsTer24
ENST00000536736.5:c.4627del	ENSP00000444586.1:p.Glu1543ArgfsTer24
ENST00000579038.5:c.1006del	ENSP00000463285.1:p.Glu336ArgfsTer24
ENST00000582408.5:c.1294del	ENSP00000461964.1:p.Glu432ArgfsTer24
NM_001145472.2:c.1294del	NP_001138944.1:p.Glu432ArgfsTer24
NM_001308013.1:c.1006del	NP_001294942.1:p.Glu336ArgfsTer24
NM_144612.6:c.4627del	NP_653213.6:p.Glu1543ArgfsTer24
XM_006722388.2:c.1426del	XP_006722451.1:p.Glu476ArgfsTer24
XM_006722389.2:c.1294del	XP_006722452.1:p.Glu432ArgfsTer24
XM_006722390.2:c.1294del	XP_006722453.1:p.Glu432ArgfsTer24
XM_006722391.2:c.1426del	XP_006722454.1:p.Glu476ArgfsTer24
XM_011525803.1:c.4627del	XP_011524105.1:p.Glu1543ArgfsTer24
XM_011525804.1:c.2788del	XP_011524106.1:p.Glu930ArgfsTer24
XM_011525805.1:c.1291del	XP_011524107.1:p.Glu431ArgfsTer24
XM_011525806.1:c.1006del	XP_011524108.1:p.Glu336ArgfsTer24
XM_011525807.1:c.1006del	XP_011524109.1:p.Glu336ArgfsTer24
XM_011525809.1:c.1006del	XP_011524111.1:p.Glu336ArgfsTer24
XM_006722388.3:c.1426del	XP_006722451.1:p.Glu476ArgfsTer24
XM_006722389.3:c.1294del	XP_006722452.1:p.Glu432ArgfsTer24
XM_006722390.3:c.1294del	XP_006722453.1:p.Glu432ArgfsTer24
XM_006722391.3:c.1426del	XP_006722454.1:p.Glu476ArgfsTer24
XM_011525804.2:c.2788del	XP_011524106.1:p.Glu930ArgfsTer24
XM_017025548.1:c.4009del	XP_016881037.1:p.Glu1337ArgfsTer24
XM_024451084.1:c.3109del	XP_024306852.1:p.Glu1037ArgfsTer24
XM_024451085.1:c.1291del	XP_024306853.1:p.Glu431ArgfsTer24
XM_024451086.1:c.1006del	XP_024306854.1:p.Glu336ArgfsTer24
XM_024451087.1:c.1006del	XP_024306855.1:p.Glu336ArgfsTer24
XM_024451088.1:c.1006del	XP_024306856.1:p.Glu336ArgfsTer24
NM_001145472.3:c.1294del	NP_001138944.1:p.Glu432ArgfsTer24
NM_001308013.2:c.1006del	NP_001294942.1:p.Glu336ArgfsTer24
NM_001384474.1:c.4627del MANE Select	NP_001371403.1:p.Glu1543ArgfsTer24
NM_144612.7:c.4627del	NP_653213.6:p.Glu1543ArgfsTer24