Canonical Allele Identifier: CA629924206

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477868_46477871del , CM000680.2:g.46477868_46477871del	GRCh38
NC_000018.9:g.44057831_44057834del , CM000680.1:g.44057831_44057834del	GRCh37
NC_000018.8:g.42311829_42311832del	NCBI36
NG_016646.1:g.184165_184168del
NG_016646.2:g.184165_184168del

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6425_6428del MANE Select	NP_001371403.1:p.Glu2142AlafsTer18
ENST00000642948.1:c.6425_6428del MANE Select	ENSP00000496347.1:p.Glu2142AlafsTer18
NM_001145472.2:c.3092_3095del	NP_001138944.1:p.Glu1031AlafsTer18
NM_001145472.3:c.3092_3095del	NP_001138944.1:p.Glu1031AlafsTer18
NM_001145473.2:c.1142_1145del	NP_001138945.1:p.Glu381AlafsTer18
NM_001145473.3:c.1142_1145del	NP_001138945.1:p.Glu381AlafsTer18
NM_001173129.1:c.1142_1145del	NP_001166600.1:p.Glu381AlafsTer18
NM_001173129.2:c.1142_1145del	NP_001166600.1:p.Glu381AlafsTer18
NM_001308013.1:c.2804_2807del	NP_001294942.1:p.Glu935AlafsTer18
NM_001308013.2:c.2804_2807del	NP_001294942.1:p.Glu935AlafsTer18
NM_144612.6:c.6239_6242del	NP_653213.6:p.Glu2080AlafsTer18
NM_144612.7:c.6239_6242del	NP_653213.6:p.Glu2080AlafsTer18
ENST00000300591.10:c.3092_3095del	ENSP00000300591.6:p.Glu1031AlafsTer18
ENST00000300591.11:c.3092_3095del	ENSP00000300591.6:p.Glu1031AlafsTer18
ENST00000398686.8:c.1142_1145del	ENSP00000381676.4:p.Glu381AlafsTer18
ENST00000398705.6:c.1142_1145del	ENSP00000381692.2:p.Glu381AlafsTer18
ENST00000398705.7:c.1142_1145del	ENSP00000381692.2:p.Glu381AlafsTer18
ENST00000441551.6:c.5807_5810del	ENSP00000387621.2:p.Glu1936AlafsTer18
ENST00000536736.5:c.6239_6242del	ENSP00000444586.1:p.Glu2080AlafsTer18
ENST00000579038.5:c.2804_2807del	ENSP00000463285.1:p.Glu935AlafsTer18
ENST00000579038.6:c.2804_2807del	ENSP00000463285.1:p.Glu935AlafsTer18
ENST00000582408.5:c.2906_2909del	ENSP00000461964.1:p.Glu969AlafsTer18
ENST00000582408.6:c.2906_2909del	ENSP00000461964.1:p.Glu969AlafsTer18
XM_006722388.2:c.3224_3227del	XP_006722451.1:p.Glu1075AlafsTer18
XM_006722388.3:c.3224_3227del	XP_006722451.1:p.Glu1075AlafsTer18
XM_006722389.2:c.3092_3095del	XP_006722452.1:p.Glu1031AlafsTer18
XM_006722389.3:c.3092_3095del	XP_006722452.1:p.Glu1031AlafsTer18
XM_006722390.2:c.3092_3095del	XP_006722453.1:p.Glu1031AlafsTer18
XM_006722390.3:c.3092_3095del	XP_006722453.1:p.Glu1031AlafsTer18
XM_006722391.2:c.3038_3041del	XP_006722454.1:p.Glu1013AlafsTer18
XM_006722391.3:c.3038_3041del	XP_006722454.1:p.Glu1013AlafsTer18
XM_011525803.1:c.6425_6428del	XP_011524105.1:p.Glu2142AlafsTer18
XM_011525804.1:c.4586_4589del	XP_011524106.1:p.Glu1529AlafsTer18
XM_011525804.2:c.4586_4589del	XP_011524106.1:p.Glu1529AlafsTer18
XM_011525805.1:c.3089_3092del	XP_011524107.1:p.Glu1030AlafsTer18
XM_011525806.1:c.2804_2807del	XP_011524108.1:p.Glu935AlafsTer18
XM_011525807.1:c.2804_2807del	XP_011524109.1:p.Glu935AlafsTer18
XM_011525809.1:c.2804_2807del	XP_011524111.1:p.Glu935AlafsTer18
XM_011525810.1:c.1193_1196del	XP_011524112.1:p.Glu398AlafsTer18
XM_011525810.2:c.1193_1196del	XP_011524112.1:p.Glu398AlafsTer18
XM_011525811.1:c.1142_1145del	XP_011524113.1:p.Glu381AlafsTer18
XM_011525811.2:c.1142_1145del	XP_011524113.1:p.Glu381AlafsTer18
XM_017025548.1:c.5807_5810del	XP_016881037.1:p.Glu1936AlafsTer18
XM_024451084.1:c.4907_4910del	XP_024306852.1:p.Glu1636AlafsTer18
XM_024451085.1:c.3089_3092del	XP_024306853.1:p.Glu1030AlafsTer18
XM_024451086.1:c.2804_2807del	XP_024306854.1:p.Glu935AlafsTer18
XM_024451087.1:c.2804_2807del	XP_024306855.1:p.Glu935AlafsTer18
XM_024451088.1:c.2804_2807del	XP_024306856.1:p.Glu935AlafsTer18