Canonical Allele Identifier: CA971456511

Gene: LOXL1

Linked Data

• dbSNP Id: rs2068624965
• gnomAD v3: 15-73930023-CT-C
• gnomAD v4: 15-73930023-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73930024del , CM000677.2:g.73930024del	GRCh38
NC_000015.9:g.74222365del , CM000677.1:g.74222365del	GRCh37
NC_000015.8:g.72009418del	NCBI36
NG_011466.1:g.8577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1102+2139del MANE Select	ENSP00000261921.7:n.1102+2139del
ENST00000261921.7:c.1102+2139del	ENSP00000261921.7:n.1102+2139del
ENST00000566011.5:c.1102+2139del	ENSP00000457827.1:n.1102+2139del
NM_005576.2:c.1102+2139del	NP_005567.2:n.1102+2139del
XM_011521555.1:c.1102+2139del	XP_011519857.1:n.1102+2139del
XR_931824.1:n.1435+2139del
NM_005576.3:c.1102+2139del	NP_005567.2:n.1102+2139del
XM_011521555.2:c.1102+2139del	XP_011519857.1:n.1102+2139del
XR_931824.2:n.1424+2139del
NM_005576.4:c.1102+2139del MANE Select	NP_005567.2:n.1102+2139del