Canonical Allele Identifier: CA2300898127

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579704_46579705delinsCA , CM000680.2:g.46579704_46579705delinsCA	GRCh38
NC_000018.9:g.44159667_44159668delinsCA , CM000680.1:g.44159667_44159668delinsCA	GRCh37
NC_000018.8:g.42413665_42413666delinsCA	NCBI36
NG_016646.1:g.82329_82330delinsTG
NG_016646.2:g.82329_82330delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1734_1735delinsTG MANE Select	ENSP00000496347.1:p.Phe578=
ENST00000335730.6:n.1047_1048delinsTG
ENST00000441551.6:c.1734_1735delinsTG	ENSP00000387621.2:p.Phe578=
ENST00000536736.5:c.1734_1735delinsTG	ENSP00000444586.1:p.Phe578=
NM_144612.6:c.1734_1735delinsTG	NP_653213.6:p.Phe578=
XM_011525803.1:c.1734_1735delinsTG	XP_011524105.1:p.Phe578=
XM_011525804.1:c.-30-1838_-30-1837delinsTG	XP_011524106.1:n.-30-1838_-30-1837delinsTG
XM_011525804.2:c.-30-1838_-30-1837delinsTG	XP_011524106.1:n.-30-1838_-30-1837delinsTG
XM_017025548.1:c.1734_1735delinsTG	XP_016881037.1:p.Phe578=
XM_024451084.1:c.216_217delinsTG	XP_024306852.1:p.Phe72=
NM_001384474.1:c.1734_1735delinsTG MANE Select	NP_001371403.1:p.Phe578=
NM_144612.7:c.1734_1735delinsTG	NP_653213.6:p.Phe578=