Canonical Allele Identifier: CA2300898148
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579759_46579761delinsGCA , CM000680.2:g.46579759_46579761delinsGCA GRCh38
NC_000018.9:g.44159722_44159724delinsGCA , CM000680.1:g.44159722_44159724delinsGCA GRCh37
NC_000018.8:g.42413720_42413722delinsGCA NCBI36
NG_016646.1:g.82273_82275delinsTGC
NG_016646.2:g.82273_82275delinsTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.1678_1680delinsTGC MANE Select ENSP00000496347.1:p.Cys560=
ENST00000335730.6:n.991_993delinsTGC
ENST00000441551.6:c.1678_1680delinsTGC ENSP00000387621.2:p.Cys560=
ENST00000536736.5:c.1678_1680delinsTGC ENSP00000444586.1:p.Cys560=
NM_144612.6:c.1678_1680delinsTGC NP_653213.6:p.Cys560=
XM_011525803.1:c.1678_1680delinsTGC XP_011524105.1:p.Cys560=
XM_011525804.1:c.-30-1894_-30-1892delinsTGC XP_011524106.1:n.-30-1894_-30-1892delinsTGC
XM_011525804.2:c.-30-1894_-30-1892delinsTGC XP_011524106.1:n.-30-1894_-30-1892delinsTGC
XM_017025548.1:c.1678_1680delinsTGC XP_016881037.1:p.Cys560=
XM_024451084.1:c.160_162delinsTGC XP_024306852.1:p.Cys54=
NM_001384474.1:c.1678_1680delinsTGC MANE Select NP_001371403.1:p.Cys560=
NM_144612.7:c.1678_1680delinsTGC NP_653213.6:p.Cys560=