Canonical Allele Identifier: CA2300872252

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46524842_46524853delinsACTTGGAGTTGT , CM000680.2:g.46524842_46524853delinsACTTGGAGTTGT	GRCh38
NC_000018.9:g.44104805_44104816delinsACTTGGAGTTGT , CM000680.1:g.44104805_44104816delinsACTTGGAGTTGT	GRCh37
NC_000018.8:g.42358803_42358814delinsACTTGGAGTTGT	NCBI36
NG_016646.1:g.137181_137192delinsACAACTCCAAGT
NG_016646.2:g.137181_137192delinsACAACTCCAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.1262_1273delinsACAACTCCAAGT	ENSP00000300591.6:p.Asp421=
ENST00000579038.6:c.974_985delinsACAACTCCAAGT	ENSP00000463285.1:p.Asp325=
ENST00000582408.6:c.1262_1273delinsACAACTCCAAGT	ENSP00000461964.1:p.Asp421=
ENST00000642948.1:c.4595_4606delinsACAACTCCAAGT MANE Select	ENSP00000496347.1:p.Asp1532=
ENST00000300591.10:c.1262_1273delinsACAACTCCAAGT	ENSP00000300591.6:p.Asp421=
ENST00000335730.6:n.3908_3919delinsACAACTCCAAGT
ENST00000441551.6:c.3977_3988delinsACAACTCCAAGT	ENSP00000387621.2:p.Asp1326=
ENST00000536736.5:c.4595_4606delinsACAACTCCAAGT	ENSP00000444586.1:p.Asp1532=
ENST00000579038.5:c.974_985delinsACAACTCCAAGT	ENSP00000463285.1:p.Asp325=
ENST00000582408.5:c.1262_1273delinsACAACTCCAAGT	ENSP00000461964.1:p.Asp421=
NM_001145472.2:c.1262_1273delinsACAACTCCAAGT	NP_001138944.1:p.Asp421=
NM_001308013.1:c.974_985delinsACAACTCCAAGT	NP_001294942.1:p.Asp325=
NM_144612.6:c.4595_4606delinsACAACTCCAAGT	NP_653213.6:p.Asp1532=
XM_006722388.2:c.1394_1405delinsACAACTCCAAGT	XP_006722451.1:p.Asp465=
XM_006722389.2:c.1262_1273delinsACAACTCCAAGT	XP_006722452.1:p.Asp421=
XM_006722390.2:c.1262_1273delinsACAACTCCAAGT	XP_006722453.1:p.Asp421=
XM_006722391.2:c.1394_1405delinsACAACTCCAAGT	XP_006722454.1:p.Asp465=
XM_011525803.1:c.4595_4606delinsACAACTCCAAGT	XP_011524105.1:p.Asp1532=
XM_011525804.1:c.2756_2767delinsACAACTCCAAGT	XP_011524106.1:p.Asp919=
XM_011525805.1:c.1259_1270delinsACAACTCCAAGT	XP_011524107.1:p.Asp420=
XM_011525806.1:c.974_985delinsACAACTCCAAGT	XP_011524108.1:p.Asp325=
XM_011525807.1:c.974_985delinsACAACTCCAAGT	XP_011524109.1:p.Asp325=
XM_011525809.1:c.974_985delinsACAACTCCAAGT	XP_011524111.1:p.Asp325=
XM_006722388.3:c.1394_1405delinsACAACTCCAAGT	XP_006722451.1:p.Asp465=
XM_006722389.3:c.1262_1273delinsACAACTCCAAGT	XP_006722452.1:p.Asp421=
XM_006722390.3:c.1262_1273delinsACAACTCCAAGT	XP_006722453.1:p.Asp421=
XM_006722391.3:c.1394_1405delinsACAACTCCAAGT	XP_006722454.1:p.Asp465=
XM_011525804.2:c.2756_2767delinsACAACTCCAAGT	XP_011524106.1:p.Asp919=
XM_017025548.1:c.3977_3988delinsACAACTCCAAGT	XP_016881037.1:p.Asp1326=
XM_024451084.1:c.3077_3088delinsACAACTCCAAGT	XP_024306852.1:p.Asp1026=
XM_024451085.1:c.1259_1270delinsACAACTCCAAGT	XP_024306853.1:p.Asp420=
XM_024451086.1:c.974_985delinsACAACTCCAAGT	XP_024306854.1:p.Asp325=
XM_024451087.1:c.974_985delinsACAACTCCAAGT	XP_024306855.1:p.Asp325=
XM_024451088.1:c.974_985delinsACAACTCCAAGT	XP_024306856.1:p.Asp325=
NM_001145472.3:c.1262_1273delinsACAACTCCAAGT	NP_001138944.1:p.Asp421=
NM_001308013.2:c.974_985delinsACAACTCCAAGT	NP_001294942.1:p.Asp325=
NM_001384474.1:c.4595_4606delinsACAACTCCAAGT MANE Select	NP_001371403.1:p.Asp1532=
NM_144612.7:c.4595_4606delinsACAACTCCAAGT	NP_653213.6:p.Asp1532=