Canonical Allele Identifier: CA2187466111

Gene: LOXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949122_73949135delinsAGGTGTTGAATCCT , CM000677.2:g.73949122_73949135delinsAGGTGTTGAATCCT	GRCh38
NC_000015.9:g.74241463_74241476delinsAGGTGTTGAATCCT , CM000677.1:g.74241463_74241476delinsAGGTGTTGAATCCT	GRCh37
NC_000015.8:g.72028516_72028529delinsAGGTGTTGAATCCT	NCBI36
NG_011466.1:g.27675_27688delinsAGGTGTTGAATCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-337_1603-324delinsAGGTGTTGAATCCT MANE Select	ENSP00000261921.7:n.1603-337_1603-324delinsAGGTGTTGAATCCT
ENST00000261921.7:c.1603-337_1603-324delinsAGGTGTTGAATCCT	ENSP00000261921.7:n.1603-337_1603-324delinsAGGTGTTGAATCCT
ENST00000562548.1:n.688-337_688-324delinsAGGTGTTGAATCCT
ENST00000566011.5:c.*491-337_*491-324delinsAGGTGTTGAATCCT	ENSP00000457827.1:n.*491-337_*491-324delinsAGGTGTTGAATCCT
ENST00000566530.1:n.441-337_441-324delinsAGGTGTTGAATCCT
ENST00000567675.1:n.76-337_76-324delinsAGGTGTTGAATCCT
NM_005576.2:c.1603-337_1603-324delinsAGGTGTTGAATCCT	NP_005567.2:n.1603-337_1603-324delinsAGGTGTTGAATCCT
XR_931824.1:n.2120-337_2120-324delinsAGGTGTTGAATCCT
NM_005576.3:c.1603-337_1603-324delinsAGGTGTTGAATCCT	NP_005567.2:n.1603-337_1603-324delinsAGGTGTTGAATCCT
XM_017022179.1:c.556-337_556-324delinsAGGTGTTGAATCCT	XP_016877668.1:n.556-337_556-324delinsAGGTGTTGAATCCT
XR_931824.2:n.2109-337_2109-324delinsAGGTGTTGAATCCT
NM_005576.4:c.1603-337_1603-324delinsAGGTGTTGAATCCT MANE Select	NP_005567.2:n.1603-337_1603-324delinsAGGTGTTGAATCCT