Canonical Allele Identifier: CA272722461

Gene: LOXL1

Linked Data

• dbSNP Id: rs66955973
• gnomAD v2: 15-74241417-CAG-C
• gnomAD v3: 15-73949076-CAG-C
• gnomAD v4: 15-73949076-CAG-C
• MyVariant Identifiers: chr15:g.74241418_74241419del (hg19) ; chr15:g.73949077_73949078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949077_73949078del , CM000677.2:g.73949077_73949078del	GRCh38
NC_000015.9:g.74241418_74241419del , CM000677.1:g.74241418_74241419del	GRCh37
NC_000015.8:g.72028471_72028472del	NCBI36
NG_011466.1:g.27630_27631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-382_1603-381del MANE Select	ENSP00000261921.7:n.1603-382_1603-381del
ENST00000261921.7:c.1603-382_1603-381del	ENSP00000261921.7:n.1603-382_1603-381del
ENST00000562548.1:n.688-382_688-381del
ENST00000566011.5:c.*491-382_*491-381del	ENSP00000457827.1:n.*491-382_*491-381del
ENST00000566530.1:n.441-382_441-381del
ENST00000567675.1:n.76-382_76-381del
NM_005576.2:c.1603-382_1603-381del	NP_005567.2:n.1603-382_1603-381del
XR_931824.1:n.2120-382_2120-381del
NM_005576.3:c.1603-382_1603-381del	NP_005567.2:n.1603-382_1603-381del
XM_017022179.1:c.556-382_556-381del	XP_016877668.1:n.556-382_556-381del
XR_931824.2:n.2109-382_2109-381del
NM_005576.4:c.1603-382_1603-381del MANE Select	NP_005567.2:n.1603-382_1603-381del