Canonical Allele Identifier: CA2629416053
Gene: LOXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73946335_73946346del , CM000677.2:g.73946335_73946346del GRCh38
NC_000015.9:g.74238676_74238687del , CM000677.1:g.74238676_74238687del GRCh37
NC_000015.8:g.72025729_72025740del NCBI36
NG_011466.1:g.24888_24899del

Transcript Alleles

HGVS Amino-acid change
ENST00000261921.8:c.1212-82_1212-71del MANE Select ENSP00000261921.7:n.1212-82_1212-71del
ENST00000261921.7:c.1212-82_1212-71del ENSP00000261921.7:n.1212-82_1212-71del
ENST00000566011.5:c.*100-82_*100-71del ENSP00000457827.1:n.*100-82_*100-71del
NM_005576.2:c.1212-82_1212-71del NP_005567.2:n.1212-82_1212-71del
XR_931824.1:n.1729-82_1729-71del
NM_005576.3:c.1212-82_1212-71del NP_005567.2:n.1212-82_1212-71del
XM_017022179.1:c.165-82_165-71del XP_016877668.1:n.165-82_165-71del
XR_931824.2:n.1718-82_1718-71del
NM_005576.4:c.1212-82_1212-71del MANE Select NP_005567.2:n.1212-82_1212-71del