Canonical Allele Identifier: CA2300894500

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46571961_46571962delinsTC , CM000680.2:g.46571961_46571962delinsTC	GRCh38
NC_000018.9:g.44151924_44151925delinsTC , CM000680.1:g.44151924_44151925delinsTC	GRCh37
NC_000018.8:g.42405922_42405923delinsTC	NCBI36
NG_016646.1:g.90072_90073delinsGA
NG_016646.2:g.90072_90073delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.2047+124_2047+125delinsGA MANE Select	ENSP00000496347.1:n.2047+124_2047+125delinsGA
ENST00000335730.6:n.1360+124_1360+125delinsGA
ENST00000441551.6:c.2047+124_2047+125delinsGA	ENSP00000387621.2:n.2047+124_2047+125delinsGA
ENST00000536736.5:c.2047+124_2047+125delinsGA	ENSP00000444586.1:n.2047+124_2047+125delinsGA
NM_144612.6:c.2047+124_2047+125delinsGA	NP_653213.6:n.2047+124_2047+125delinsGA
XM_011525803.1:c.2047+124_2047+125delinsGA	XP_011524105.1:n.2047+124_2047+125delinsGA
XM_011525804.1:c.208+124_208+125delinsGA	XP_011524106.1:n.208+124_208+125delinsGA
XM_011525804.2:c.208+124_208+125delinsGA	XP_011524106.1:n.208+124_208+125delinsGA
XM_017025548.1:c.2047+124_2047+125delinsGA	XP_016881037.1:n.2047+124_2047+125delinsGA
XM_024451084.1:c.529+124_529+125delinsGA	XP_024306852.1:n.529+124_529+125delinsGA
NM_001384474.1:c.2047+124_2047+125delinsGA MANE Select	NP_001371403.1:n.2047+124_2047+125delinsGA
NM_144612.7:c.2047+124_2047+125delinsGA	NP_653213.6:n.2047+124_2047+125delinsGA