Canonical Allele Identifier: CA2580072455
Gene: LOX HGNC NCBI

Linked Data

ClinVar Variation Id: 1785898
ClinVar RCV Id: RCV002424210 RCV003775097
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.122077769_122077785dup , CM000667.2:g.122077769_122077785dup GRCh38
NC_000005.9:g.121413464_121413480dup , CM000667.1:g.121413464_121413480dup GRCh37
NC_000005.8:g.121441363_121441379dup NCBI36
NG_008722.1:g.5585_5601dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000231004.5:c.210_226dup MANE Select ENSP00000231004.4:p.Val76GlyfsTer24
ENST00000639739.2:c.210_226dup ENSP00000492324.2:p.Val76GlyfsTer24
ENST00000231004.4:c.210_226dup ENSP00000231004.4:p.Val76GlyfsTer24
NM_002317.5:c.210_226dup NP_002308.2:p.Val76GlyfsTer24
NM_002317.6:c.210_226dup NP_002308.2:p.Val76GlyfsTer24
NM_002317.7:c.210_226dup MANE Select NP_002308.2:p.Val76GlyfsTer24
Search 100 bp 5'
Search 100 bp 3'