Canonical Allele Identifier: CA619410964

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs1567083009
• gnomAD v2: 15-74220094-CCG-C
• gnomAD v4: 15-73927753-CCG-C
• MyVariant Identifiers: chr15:g.74220095_74220096del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927761_73927762del , CM000677.2:g.73927761_73927762del	GRCh38
NC_000015.9:g.74220102_74220103del , CM000677.1:g.74220102_74220103del	GRCh37
NC_000015.8:g.72007155_72007156del	NCBI36
NG_011466.1:g.6314_6315del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.978_979del (LOXL1) MANE Select	ENSP00000261921.7:p.Leu327GlyfsTer?
ENST00000261921.7:c.978_979del (LOXL1)	ENSP00000261921.7:p.Leu327GlyfsTer?
ENST00000566011.5:c.978_979del (LOXL1)	ENSP00000457827.1:p.Leu327GlyfsTer?
NM_005576.2:c.978_979del (LOXL1)	NP_005567.2:p.Leu327GlyfsTer?
NR_040066.1:n.32_33del (LOXL1-AS1)
NR_040067.1:n.32_33del (LOXL1-AS1)
NR_040068.1:n.184+310_184+311del (LOXL1-AS1)
NR_040069.1:n.184+310_184+311del (LOXL1-AS1)
NR_040070.1:n.184+22_184+23del (LOXL1-AS1)
XM_011521555.1:c.978_979del (LOXL1)	XP_011519857.1:p.Leu327GlyfsTer?
XR_931824.1:n.1311_1312del (LOXL1)
NM_005576.3:c.978_979del (LOXL1)	NP_005567.2:p.Leu327GlyfsTer?
XM_011521555.2:c.978_979del (LOXL1)	XP_011519857.1:p.Leu327GlyfsTer?
XR_931824.2:n.1300_1301del (LOXL1)
NM_005576.4:c.978_979del (LOXL1) MANE Select	NP_005567.2:p.Leu327GlyfsTer?