Canonical Allele Identifier: CA2187454946

Gene: LOXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73930093_73930101delinsTAGGTGCCA , CM000677.2:g.73930093_73930101delinsTAGGTGCCA	GRCh38
NC_000015.9:g.74222434_74222442delinsTAGGTGCCA , CM000677.1:g.74222434_74222442delinsTAGGTGCCA	GRCh37
NC_000015.8:g.72009487_72009495delinsTAGGTGCCA	NCBI36
NG_011466.1:g.8646_8654delinsTAGGTGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1102+2208_1102+2216delinsTAGGTGCCA MANE Select	ENSP00000261921.7:n.1102+2208_1102+2216delinsTAGGTGCCA
ENST00000261921.7:c.1102+2208_1102+2216delinsTAGGTGCCA	ENSP00000261921.7:n.1102+2208_1102+2216delinsTAGGTGCCA
ENST00000566011.5:c.1102+2208_1102+2216delinsTAGGTGCCA	ENSP00000457827.1:n.1102+2208_1102+2216delinsTAGGTGCCA
NM_005576.2:c.1102+2208_1102+2216delinsTAGGTGCCA	NP_005567.2:n.1102+2208_1102+2216delinsTAGGTGCCA
XM_011521555.1:c.1102+2208_1102+2216delinsTAGGTGCCA	XP_011519857.1:n.1102+2208_1102+2216delinsTAGGTGCCA
XR_931824.1:n.1435+2208_1435+2216delinsTAGGTGCCA
NM_005576.3:c.1102+2208_1102+2216delinsTAGGTGCCA	NP_005567.2:n.1102+2208_1102+2216delinsTAGGTGCCA
XM_011521555.2:c.1102+2208_1102+2216delinsTAGGTGCCA	XP_011519857.1:n.1102+2208_1102+2216delinsTAGGTGCCA
XR_931824.2:n.1424+2208_1424+2216delinsTAGGTGCCA
NM_005576.4:c.1102+2208_1102+2216delinsTAGGTGCCA MANE Select	NP_005567.2:n.1102+2208_1102+2216delinsTAGGTGCCA