Canonical Allele Identifier: CA503816914

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 2036324
• ClinVar RCV Id: RCV002894878
• MyVariant Identifiers: chr18:g.44159600del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579640del , CM000680.2:g.46579640del	GRCh38
NC_000018.9:g.44159603del , CM000680.1:g.44159603del	GRCh37
NC_000018.8:g.42413601del	NCBI36
NG_016646.1:g.82397del
NG_016646.2:g.82397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1802del MANE Select	ENSP00000496347.1:p.Lys601ArgfsTer17
ENST00000335730.6:n.1115del
ENST00000441551.6:c.1802del	ENSP00000387621.2:p.Lys601ArgfsTer17
ENST00000536736.5:c.1802del	ENSP00000444586.1:p.Lys601ArgfsTer17
NM_144612.6:c.1802del	NP_653213.6:p.Lys601ArgfsTer17
XM_011525803.1:c.1802del	XP_011524105.1:p.Lys601ArgfsTer17
XM_011525804.1:c.-30-1770del	XP_011524106.1:n.-30-1770del
XM_011525804.2:c.-30-1770del	XP_011524106.1:n.-30-1770del
XM_017025548.1:c.1802del	XP_016881037.1:p.Lys601ArgfsTer17
XM_024451084.1:c.284del	XP_024306852.1:p.Lys95ArgfsTer17
NM_001384474.1:c.1802del MANE Select	NP_001371403.1:p.Lys601ArgfsTer17
NM_144612.7:c.1802del	NP_653213.6:p.Lys601ArgfsTer17