Canonical Allele Identifier: CA629924171

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477781_46477788del , CM000680.2:g.46477781_46477788del	GRCh38
NC_000018.9:g.44057744_44057751del , CM000680.1:g.44057744_44057751del	GRCh37
NC_000018.8:g.42311742_42311749del	NCBI36
NG_016646.1:g.184248_184255del
NG_016646.2:g.184248_184255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.3175_3182del	ENSP00000300591.6:p.Thr1059GlnfsTer?
ENST00000398705.7:c.1225_1232del	ENSP00000381692.2:p.Thr409GlnfsTer?
ENST00000579038.6:c.2887_2894del	ENSP00000463285.1:p.Thr963GlnfsTer?
ENST00000582408.6:c.2989_2996del	ENSP00000461964.1:p.Thr997GlnfsTer?
ENST00000642948.1:c.6508_6515del MANE Select	ENSP00000496347.1:p.Thr2170GlnfsTer?
ENST00000300591.10:c.3175_3182del	ENSP00000300591.6:p.Thr1059GlnfsTer?
ENST00000398686.8:c.1225_1232del	ENSP00000381676.4:p.Thr409GlnfsTer?
ENST00000398705.6:c.1225_1232del	ENSP00000381692.2:p.Thr409GlnfsTer?
ENST00000441551.6:c.5890_5897del	ENSP00000387621.2:p.Thr1964GlnfsTer?
ENST00000536736.5:c.6322_6329del	ENSP00000444586.1:p.Thr2108GlnfsTer?
ENST00000579038.5:c.2887_2894del	ENSP00000463285.1:p.Thr963GlnfsTer?
ENST00000582408.5:c.2989_2996del	ENSP00000461964.1:p.Thr997GlnfsTer?
NM_001145472.2:c.3175_3182del	NP_001138944.1:p.Thr1059GlnfsTer?
NM_001145473.2:c.1225_1232del	NP_001138945.1:p.Thr409GlnfsTer?
NM_001173129.1:c.1225_1232del	NP_001166600.1:p.Thr409GlnfsTer?
NM_001308013.1:c.2887_2894del	NP_001294942.1:p.Thr963GlnfsTer?
NM_144612.6:c.6322_6329del	NP_653213.6:p.Thr2108GlnfsTer?
XM_006722388.2:c.3307_3314del	XP_006722451.1:p.Thr1103GlnfsTer?
XM_006722389.2:c.3175_3182del	XP_006722452.1:p.Thr1059GlnfsTer?
XM_006722390.2:c.3175_3182del	XP_006722453.1:p.Thr1059GlnfsTer?
XM_006722391.2:c.3121_3128del	XP_006722454.1:p.Thr1041GlnfsTer?
XM_011525803.1:c.6508_6515del	XP_011524105.1:p.Thr2170GlnfsTer?
XM_011525804.1:c.4669_4676del	XP_011524106.1:p.Thr1557GlnfsTer?
XM_011525805.1:c.3172_3179del	XP_011524107.1:p.Thr1058GlnfsTer?
XM_011525806.1:c.2887_2894del	XP_011524108.1:p.Thr963GlnfsTer?
XM_011525807.1:c.2887_2894del	XP_011524109.1:p.Thr963GlnfsTer?
XM_011525809.1:c.2887_2894del	XP_011524111.1:p.Thr963GlnfsTer?
XM_011525810.1:c.1276_1283del	XP_011524112.1:p.Thr426GlnfsTer?
XM_011525811.1:c.1225_1232del	XP_011524113.1:p.Thr409GlnfsTer?
XM_006722388.3:c.3307_3314del	XP_006722451.1:p.Thr1103GlnfsTer?
XM_006722389.3:c.3175_3182del	XP_006722452.1:p.Thr1059GlnfsTer?
XM_006722390.3:c.3175_3182del	XP_006722453.1:p.Thr1059GlnfsTer?
XM_006722391.3:c.3121_3128del	XP_006722454.1:p.Thr1041GlnfsTer?
XM_011525804.2:c.4669_4676del	XP_011524106.1:p.Thr1557GlnfsTer?
XM_011525810.2:c.1276_1283del	XP_011524112.1:p.Thr426GlnfsTer?
XM_011525811.2:c.1225_1232del	XP_011524113.1:p.Thr409GlnfsTer?
XM_017025548.1:c.5890_5897del	XP_016881037.1:p.Thr1964GlnfsTer?
XM_024451084.1:c.4990_4997del	XP_024306852.1:p.Thr1664GlnfsTer?
XM_024451085.1:c.3172_3179del	XP_024306853.1:p.Thr1058GlnfsTer?
XM_024451086.1:c.2887_2894del	XP_024306854.1:p.Thr963GlnfsTer?
XM_024451087.1:c.2887_2894del	XP_024306855.1:p.Thr963GlnfsTer?
XM_024451088.1:c.2887_2894del	XP_024306856.1:p.Thr963GlnfsTer?
NM_001145472.3:c.3175_3182del	NP_001138944.1:p.Thr1059GlnfsTer?
NM_001145473.3:c.1225_1232del	NP_001138945.1:p.Thr409GlnfsTer?
NM_001173129.2:c.1225_1232del	NP_001166600.1:p.Thr409GlnfsTer?
NM_001308013.2:c.2887_2894del	NP_001294942.1:p.Thr963GlnfsTer?
NM_001384474.1:c.6508_6515del MANE Select	NP_001371403.1:p.Thr2170GlnfsTer?
NM_144612.7:c.6322_6329del	NP_653213.6:p.Thr2108GlnfsTer?