Canonical Allele Identifier: CA272712837
Gene: LOXL1 HGNC NCBI

Linked Data

dbSNP Id: rs1009530842

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73929937_73929940del , CM000677.2:g.73929937_73929940del GRCh38
NC_000015.9:g.74222278_74222281del , CM000677.1:g.74222278_74222281del GRCh37
NC_000015.8:g.72009331_72009334del NCBI36
NG_011466.1:g.8490_8493del

Transcript Alleles

HGVS Amino-acid change
ENST00000261921.8:c.1102+2052_1102+2055del MANE Select ENSP00000261921.7:n.1102+2052_1102+2055de...
ENST00000261921.7:c.1102+2052_1102+2055del ENSP00000261921.7:n.1102+2052_1102+2055de...
ENST00000566011.5:c.1102+2052_1102+2055del ENSP00000457827.1:n.1102+2052_1102+2055de...
NM_005576.2:c.1102+2052_1102+2055del NP_005567.2:n.1102+2052_1102+2055del
XM_011521555.1:c.1102+2052_1102+2055del XP_011519857.1:n.1102+2052_1102+2055del
XR_931824.1:n.1435+2052_1435+2055del
NM_005576.3:c.1102+2052_1102+2055del NP_005567.2:n.1102+2052_1102+2055del
XM_011521555.2:c.1102+2052_1102+2055del XP_011519857.1:n.1102+2052_1102+2055del
XR_931824.2:n.1424+2052_1424+2055del
NM_005576.4:c.1102+2052_1102+2055del MANE Select NP_005567.2:n.1102+2052_1102+2055del