Canonical Allele Identifier: CA2641672330

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 2782012
• ClinVar RCV Id: RCV003662202
• gnomAD v4: 18-46572071-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46572072del , CM000680.2:g.46572072del	GRCh38
NC_000018.9:g.44152035del , CM000680.1:g.44152035del	GRCh37
NC_000018.8:g.42406033del	NCBI36
NG_016646.1:g.89962del
NG_016646.2:g.89962del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.2047+14del MANE Select	ENSP00000496347.1:n.2047+14del
ENST00000335730.6:n.1360+14del
ENST00000441551.6:c.2047+14del	ENSP00000387621.2:n.2047+14del
ENST00000536736.5:c.2047+14del	ENSP00000444586.1:n.2047+14del
NM_144612.6:c.2047+14del	NP_653213.6:n.2047+14del
XM_011525803.1:c.2047+14del	XP_011524105.1:n.2047+14del
XM_011525804.1:c.208+14del	XP_011524106.1:n.208+14del
XM_011525804.2:c.208+14del	XP_011524106.1:n.208+14del
XM_017025548.1:c.2047+14del	XP_016881037.1:n.2047+14del
XM_024451084.1:c.529+14del	XP_024306852.1:n.529+14del
NM_001384474.1:c.2047+14del MANE Select	NP_001371403.1:n.2047+14del
NM_144612.7:c.2047+14del	NP_653213.6:n.2047+14del