Canonical Allele Identifier: CA2300898107

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579672_46579675delinsGAGC , CM000680.2:g.46579672_46579675delinsGAGC	GRCh38
NC_000018.9:g.44159635_44159638delinsGAGC , CM000680.1:g.44159635_44159638delinsGAGC	GRCh37
NC_000018.8:g.42413633_42413636delinsGAGC	NCBI36
NG_016646.1:g.82359_82362delinsGCTC
NG_016646.2:g.82359_82362delinsGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1764_1767delinsGCTC MANE Select	ENSP00000496347.1:p.Leu588=
ENST00000335730.6:n.1077_1080delinsGCTC
ENST00000441551.6:c.1764_1767delinsGCTC	ENSP00000387621.2:p.Leu588=
ENST00000536736.5:c.1764_1767delinsGCTC	ENSP00000444586.1:p.Leu588=
NM_144612.6:c.1764_1767delinsGCTC	NP_653213.6:p.Leu588=
XM_011525803.1:c.1764_1767delinsGCTC	XP_011524105.1:p.Leu588=
XM_011525804.1:c.-30-1808_-30-1805delinsGCTC	XP_011524106.1:n.-30-1808_-30-1805delinsGCTC
XM_011525804.2:c.-30-1808_-30-1805delinsGCTC	XP_011524106.1:n.-30-1808_-30-1805delinsGCTC
XM_017025548.1:c.1764_1767delinsGCTC	XP_016881037.1:p.Leu588=
XM_024451084.1:c.246_249delinsGCTC	XP_024306852.1:p.Leu82=
NM_001384474.1:c.1764_1767delinsGCTC MANE Select	NP_001371403.1:p.Leu588=
NM_144612.7:c.1764_1767delinsGCTC	NP_653213.6:p.Leu588=