Canonical Allele Identifier: CA491167163

Gene: LOXL1

Linked Data

• dbSNP Id: rs1392060539
• gnomAD v3: 15-73930093-TAGGTGCCA-T
• gnomAD v4: 15-73930093-TAGGTGCCA-T
• MyVariant Identifiers: chr15:g.74222435_74222442del (hg19) ; chr15:g.73930094_73930101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73930096_73930103del , CM000677.2:g.73930096_73930103del	GRCh38
NC_000015.9:g.74222437_74222444del , CM000677.1:g.74222437_74222444del	GRCh37
NC_000015.8:g.72009490_72009497del	NCBI36
NG_011466.1:g.8649_8656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1102+2211_1102+2218del MANE Select	ENSP00000261921.7:n.1102+2211_1102+2218del
ENST00000261921.7:c.1102+2211_1102+2218del	ENSP00000261921.7:n.1102+2211_1102+2218del
ENST00000566011.5:c.1102+2211_1102+2218del	ENSP00000457827.1:n.1102+2211_1102+2218del
NM_005576.2:c.1102+2211_1102+2218del	NP_005567.2:n.1102+2211_1102+2218del
XM_011521555.1:c.1102+2211_1102+2218del	XP_011519857.1:n.1102+2211_1102+2218del
XR_931824.1:n.1435+2211_1435+2218del
NM_005576.3:c.1102+2211_1102+2218del	NP_005567.2:n.1102+2211_1102+2218del
XM_011521555.2:c.1102+2211_1102+2218del	XP_011519857.1:n.1102+2211_1102+2218del
XR_931824.2:n.1424+2211_1424+2218del
NM_005576.4:c.1102+2211_1102+2218del MANE Select	NP_005567.2:n.1102+2211_1102+2218del