Canonical Allele Identifier: CA2300894490
Gene: LOXHD1 HGNC NCBI

Linked Data

dbSNP Id: rs2037759689

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46571949_46571960del , CM000680.2:g.46571949_46571960del GRCh38
NC_000018.9:g.44151912_44151923del , CM000680.1:g.44151912_44151923del GRCh37
NC_000018.8:g.42405910_42405921del NCBI36
NG_016646.1:g.90081_90092del
NG_016646.2:g.90081_90092del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.2047+133_2047+144del MANE Select ENSP00000496347.1:n.2047+133_2047+144del
ENST00000335730.6:n.1360+133_1360+144del
ENST00000441551.6:c.2047+133_2047+144del ENSP00000387621.2:n.2047+133_2047+144del
ENST00000536736.5:c.2047+133_2047+144del ENSP00000444586.1:n.2047+133_2047+144del
NM_144612.6:c.2047+133_2047+144del NP_653213.6:n.2047+133_2047+144del
XM_011525803.1:c.2047+133_2047+144del XP_011524105.1:n.2047+133_2047+144del
XM_011525804.1:c.208+133_208+144del XP_011524106.1:n.208+133_208+144del
XM_011525804.2:c.208+133_208+144del XP_011524106.1:n.208+133_208+144del
XM_017025548.1:c.2047+133_2047+144del XP_016881037.1:n.2047+133_2047+144del
XM_024451084.1:c.529+133_529+144del XP_024306852.1:n.529+133_529+144del
NM_001384474.1:c.2047+133_2047+144del MANE Select NP_001371403.1:n.2047+133_2047+144del
NM_144612.7:c.2047+133_2047+144del NP_653213.6:n.2047+133_2047+144del