Canonical Allele Identifier: CA715624030

Gene: LOXL1

Linked Data

• dbSNP Id: rs1170343872
• gnomAD v3: 15-73949178-CCT-C
• gnomAD v4: 15-73949178-CCT-C
• MyVariant Identifiers: chr15:g.74241520_74241521del (hg19) ; chr15:g.73949179_73949180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949183_73949184del , CM000677.2:g.73949183_73949184del	GRCh38
NC_000015.9:g.74241524_74241525del , CM000677.1:g.74241524_74241525del	GRCh37
NC_000015.8:g.72028577_72028578del	NCBI36
NG_011466.1:g.27736_27737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-276_1603-275del MANE Select	ENSP00000261921.7:n.1603-276_1603-275del
ENST00000261921.7:c.1603-276_1603-275del	ENSP00000261921.7:n.1603-276_1603-275del
ENST00000562548.1:n.688-276_688-275del
ENST00000566011.5:c.*491-276_*491-275del	ENSP00000457827.1:n.*491-276_*491-275del
ENST00000566530.1:n.441-276_441-275del
ENST00000567675.1:n.76-276_76-275del
NM_005576.2:c.1603-276_1603-275del	NP_005567.2:n.1603-276_1603-275del
XR_931824.1:n.2120-276_2120-275del
NM_005576.3:c.1603-276_1603-275del	NP_005567.2:n.1603-276_1603-275del
XM_017022179.1:c.556-276_556-275del	XP_016877668.1:n.556-276_556-275del
XR_931824.2:n.2109-276_2109-275del
NM_005576.4:c.1603-276_1603-275del MANE Select	NP_005567.2:n.1603-276_1603-275del