Canonical Allele Identifier: CA2300898037
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579553_46579554delinsCA , CM000680.2:g.46579553_46579554delinsCA GRCh38
NC_000018.9:g.44159516_44159517delinsCA , CM000680.1:g.44159516_44159517delinsCA GRCh37
NC_000018.8:g.42413514_42413515delinsCA NCBI36
NG_016646.1:g.82480_82481delinsTG
NG_016646.2:g.82480_82481delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.1809+76_1809+77delinsTG MANE Select ENSP00000496347.1:n.1809+76_1809+77delinsTG
ENST00000335730.6:n.1122+76_1122+77delinsTG
ENST00000441551.6:c.1809+76_1809+77delinsTG ENSP00000387621.2:n.1809+76_1809+77delinsTG
ENST00000536736.5:c.1809+76_1809+77delinsTG ENSP00000444586.1:n.1809+76_1809+77delinsTG
NM_144612.6:c.1809+76_1809+77delinsTG NP_653213.6:n.1809+76_1809+77delinsTG
XM_011525803.1:c.1809+76_1809+77delinsTG XP_011524105.1:n.1809+76_1809+77delinsTG
XM_011525804.1:c.-30-1687_-30-1686delinsTG XP_011524106.1:n.-30-1687_-30-1686delinsTG
XM_011525804.2:c.-30-1687_-30-1686delinsTG XP_011524106.1:n.-30-1687_-30-1686delinsTG
XM_017025548.1:c.1809+76_1809+77delinsTG XP_016881037.1:n.1809+76_1809+77delinsTG
XM_024451084.1:c.291+76_291+77delinsTG XP_024306852.1:n.291+76_291+77delinsTG
NM_001384474.1:c.1809+76_1809+77delinsTG MANE Select NP_001371403.1:n.1809+76_1809+77delinsTG
NM_144612.7:c.1809+76_1809+77delinsTG NP_653213.6:n.1809+76_1809+77delinsTG