Canonical Allele Identifier: CA2187454932
Gene: LOXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73930056_73930059delinsTTGG , CM000677.2:g.73930056_73930059delinsTTGG GRCh38
NC_000015.9:g.74222397_74222400delinsTTGG , CM000677.1:g.74222397_74222400delinsTTGG GRCh37
NC_000015.8:g.72009450_72009453delinsTTGG NCBI36
NG_011466.1:g.8609_8612delinsTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261921.8:c.1102+2171_1102+2174delinsTTGG MANE Select ENSP00000261921.7:n.1102+2171_1102+2174delinsTTGG
ENST00000261921.7:c.1102+2171_1102+2174delinsTTGG ENSP00000261921.7:n.1102+2171_1102+2174delinsTTGG
ENST00000566011.5:c.1102+2171_1102+2174delinsTTGG ENSP00000457827.1:n.1102+2171_1102+2174delinsTTGG
NM_005576.2:c.1102+2171_1102+2174delinsTTGG NP_005567.2:n.1102+2171_1102+2174delinsTTGG
XM_011521555.1:c.1102+2171_1102+2174delinsTTGG XP_011519857.1:n.1102+2171_1102+2174delinsTTGG
XR_931824.1:n.1435+2171_1435+2174delinsTTGG
NM_005576.3:c.1102+2171_1102+2174delinsTTGG NP_005567.2:n.1102+2171_1102+2174delinsTTGG
XM_011521555.2:c.1102+2171_1102+2174delinsTTGG XP_011519857.1:n.1102+2171_1102+2174delinsTTGG
XR_931824.2:n.1424+2171_1424+2174delinsTTGG
NM_005576.4:c.1102+2171_1102+2174delinsTTGG MANE Select NP_005567.2:n.1102+2171_1102+2174delinsTTGG