Canonical Allele Identifier: CA2580612990

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477870_46477871del , CM000680.2:g.46477870_46477871del	GRCh38
NC_000018.9:g.44057833_44057834del , CM000680.1:g.44057833_44057834del	GRCh37
NC_000018.8:g.42311831_42311832del	NCBI36
NG_016646.1:g.184167_184168del
NG_016646.2:g.184167_184168del

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6427_6428del MANE Select	NP_001371403.1:p.Ser2143LeufsTer22
ENST00000642948.1:c.6427_6428del MANE Select	ENSP00000496347.1:p.Ser2143LeufsTer22
NM_001145472.2:c.3094_3095del	NP_001138944.1:p.Ser1032LeufsTer22
NM_001145472.3:c.3094_3095del	NP_001138944.1:p.Ser1032LeufsTer22
NM_001145473.2:c.1144_1145del	NP_001138945.1:p.Ser382LeufsTer22
NM_001145473.3:c.1144_1145del	NP_001138945.1:p.Ser382LeufsTer22
NM_001173129.1:c.1144_1145del	NP_001166600.1:p.Ser382LeufsTer22
NM_001173129.2:c.1144_1145del	NP_001166600.1:p.Ser382LeufsTer22
NM_001308013.1:c.2806_2807del	NP_001294942.1:p.Ser936LeufsTer22
NM_001308013.2:c.2806_2807del	NP_001294942.1:p.Ser936LeufsTer22
NM_144612.6:c.6241_6242del	NP_653213.6:p.Ser2081LeufsTer22
NM_144612.7:c.6241_6242del	NP_653213.6:p.Ser2081LeufsTer22
ENST00000300591.10:c.3094_3095del	ENSP00000300591.6:p.Ser1032LeufsTer22
ENST00000300591.11:c.3094_3095del	ENSP00000300591.6:p.Ser1032LeufsTer22
ENST00000398686.8:c.1144_1145del	ENSP00000381676.4:p.Ser382LeufsTer22
ENST00000398705.6:c.1144_1145del	ENSP00000381692.2:p.Ser382LeufsTer22
ENST00000398705.7:c.1144_1145del	ENSP00000381692.2:p.Ser382LeufsTer22
ENST00000441551.6:c.5809_5810del	ENSP00000387621.2:p.Ser1937LeufsTer22
ENST00000536736.5:c.6241_6242del	ENSP00000444586.1:p.Ser2081LeufsTer22
ENST00000579038.5:c.2806_2807del	ENSP00000463285.1:p.Ser936LeufsTer22
ENST00000579038.6:c.2806_2807del	ENSP00000463285.1:p.Ser936LeufsTer22
ENST00000582408.5:c.2908_2909del	ENSP00000461964.1:p.Ser970LeufsTer22
ENST00000582408.6:c.2908_2909del	ENSP00000461964.1:p.Ser970LeufsTer22
XM_006722388.2:c.3226_3227del	XP_006722451.1:p.Ser1076LeufsTer22
XM_006722388.3:c.3226_3227del	XP_006722451.1:p.Ser1076LeufsTer22
XM_006722389.2:c.3094_3095del	XP_006722452.1:p.Ser1032LeufsTer22
XM_006722389.3:c.3094_3095del	XP_006722452.1:p.Ser1032LeufsTer22
XM_006722390.2:c.3094_3095del	XP_006722453.1:p.Ser1032LeufsTer22
XM_006722390.3:c.3094_3095del	XP_006722453.1:p.Ser1032LeufsTer22
XM_006722391.2:c.3040_3041del	XP_006722454.1:p.Ser1014LeufsTer22
XM_006722391.3:c.3040_3041del	XP_006722454.1:p.Ser1014LeufsTer22
XM_011525803.1:c.6427_6428del	XP_011524105.1:p.Ser2143LeufsTer22
XM_011525804.1:c.4588_4589del	XP_011524106.1:p.Ser1530LeufsTer22
XM_011525804.2:c.4588_4589del	XP_011524106.1:p.Ser1530LeufsTer22
XM_011525805.1:c.3091_3092del	XP_011524107.1:p.Ser1031LeufsTer22
XM_011525806.1:c.2806_2807del	XP_011524108.1:p.Ser936LeufsTer22
XM_011525807.1:c.2806_2807del	XP_011524109.1:p.Ser936LeufsTer22
XM_011525809.1:c.2806_2807del	XP_011524111.1:p.Ser936LeufsTer22
XM_011525810.1:c.1195_1196del	XP_011524112.1:p.Ser399LeufsTer22
XM_011525810.2:c.1195_1196del	XP_011524112.1:p.Ser399LeufsTer22
XM_011525811.1:c.1144_1145del	XP_011524113.1:p.Ser382LeufsTer22
XM_011525811.2:c.1144_1145del	XP_011524113.1:p.Ser382LeufsTer22
XM_017025548.1:c.5809_5810del	XP_016881037.1:p.Ser1937LeufsTer22
XM_024451084.1:c.4909_4910del	XP_024306852.1:p.Ser1637LeufsTer22
XM_024451085.1:c.3091_3092del	XP_024306853.1:p.Ser1031LeufsTer22
XM_024451086.1:c.2806_2807del	XP_024306854.1:p.Ser936LeufsTer22
XM_024451087.1:c.2806_2807del	XP_024306855.1:p.Ser936LeufsTer22
XM_024451088.1:c.2806_2807del	XP_024306856.1:p.Ser936LeufsTer22