Canonical Allele Identifier: CA2641673057

Gene: LOXHD1

Linked Data

• gnomAD v4: 18-46579496-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579497_46579499del , CM000680.2:g.46579497_46579499del	GRCh38
NC_000018.9:g.44159460_44159462del , CM000680.1:g.44159460_44159462del	GRCh37
NC_000018.8:g.42413458_42413460del	NCBI36
NG_016646.1:g.82535_82537del
NG_016646.2:g.82535_82537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1809+131_1809+133del MANE Select	ENSP00000496347.1:n.1809+131_1809+133del
ENST00000335730.6:n.1122+131_1122+133del
ENST00000441551.6:c.1809+131_1809+133del	ENSP00000387621.2:n.1809+131_1809+133del
ENST00000536736.5:c.1809+131_1809+133del	ENSP00000444586.1:n.1809+131_1809+133del
NM_144612.6:c.1809+131_1809+133del	NP_653213.6:n.1809+131_1809+133del
XM_011525803.1:c.1809+131_1809+133del	XP_011524105.1:n.1809+131_1809+133del
XM_011525804.1:c.-30-1632_-30-1630del	XP_011524106.1:n.-30-1632_-30-1630del
XM_011525804.2:c.-30-1632_-30-1630del	XP_011524106.1:n.-30-1632_-30-1630del
XM_017025548.1:c.1809+131_1809+133del	XP_016881037.1:n.1809+131_1809+133del
XM_024451084.1:c.291+131_291+133del	XP_024306852.1:n.291+131_291+133del
NM_001384474.1:c.1809+131_1809+133del MANE Select	NP_001371403.1:n.1809+131_1809+133del
NM_144612.7:c.1809+131_1809+133del	NP_653213.6:n.1809+131_1809+133del