Canonical Allele Identifier: CA619092666

Gene: LOXL1

Linked Data

• dbSNP Id: rs1284945139
• gnomAD v2: 15-74222393-C-CAA
• gnomAD v3: 15-73930052-C-CAA
• gnomAD v4: 15-73930052-C-CAA
• MyVariant Identifiers: chr15:g.74222393_74222394insAA (hg19) ; chr15:g.73930052_73930053insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73930053_73930054insAA , CM000677.2:g.73930053_73930054insAA	GRCh38
NC_000015.9:g.74222394_74222395insAA , CM000677.1:g.74222394_74222395insAA	GRCh37
NC_000015.8:g.72009447_72009448insAA	NCBI36
NG_011466.1:g.8606_8607insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1102+2168_1102+2169insAA MANE Select	ENSP00000261921.7:n.1102+2168_1102+2169insAA
ENST00000261921.7:c.1102+2168_1102+2169insAA	ENSP00000261921.7:n.1102+2168_1102+2169insAA
ENST00000566011.5:c.1102+2168_1102+2169insAA	ENSP00000457827.1:n.1102+2168_1102+2169insAA
NM_005576.2:c.1102+2168_1102+2169insAA	NP_005567.2:n.1102+2168_1102+2169insAA
XM_011521555.1:c.1102+2168_1102+2169insAA	XP_011519857.1:n.1102+2168_1102+2169insAA
XR_931824.1:n.1435+2168_1435+2169insAA
NM_005576.3:c.1102+2168_1102+2169insAA	NP_005567.2:n.1102+2168_1102+2169insAA
XM_011521555.2:c.1102+2168_1102+2169insAA	XP_011519857.1:n.1102+2168_1102+2169insAA
XR_931824.2:n.1424+2168_1424+2169insAA
NM_005576.4:c.1102+2168_1102+2169insAA MANE Select	NP_005567.2:n.1102+2168_1102+2169insAA