Canonical Allele Identifier: CA125945923

Gene: LOX SRFBP1

Linked Data

• dbSNP Id: rs762716345
• gnomAD v2: 5-121406044-C-CAGATT
• gnomAD v3: 5-122070349-C-CAGATT
• gnomAD v4: 5-122070349-C-CAGATT
• MyVariant Identifiers: chr5:g.121406044_121406045insAGATT (hg19) ; chr5:g.122070349_122070350insAGATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070365_122070369dup , CM000667.2:g.122070365_122070369dup	GRCh38
NC_000005.9:g.121406060_121406064dup , CM000667.1:g.121406060_121406064dup	GRCh37
NC_000005.8:g.121433959_121433963dup	NCBI36
NG_008722.1:g.13007_13011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1131+140_1131+144dup (LOX) MANE Select	ENSP00000231004.4:n.1131+140_1131+144dup
ENST00000639739.2:c.*323+140_*323+144dup (LOX)	ENSP00000492324.2:n.*323+140_*323+144dup
ENST00000231004.4:c.1131+140_1131+144dup (LOX)	ENSP00000231004.4:n.1131+140_1131+144dup
ENST00000503759.5:n.722+140_722+144dup (LOX)
ENST00000504881.1:n.312-4950_312-4946dup (SRFBP1)
ENST00000505593.5:n.457+140_457+144dup (LOX)
ENST00000513319.5:n.474+140_474+144dup (LOX)
NM_001178102.1:c.441+140_441+144dup (LOX)	NP_001171573.1:n.441+140_441+144dup
NM_001178102.2:c.441+140_441+144dup (LOX)	NP_001171573.1:n.441+140_441+144dup
NM_001317073.1:c.240+140_240+144dup (LOX)	NP_001304002.1:n.240+140_240+144dup
NM_002317.5:c.1131+140_1131+144dup (LOX)	NP_002308.2:n.1131+140_1131+144dup
NM_002317.6:c.1131+140_1131+144dup (LOX)	NP_002308.2:n.1131+140_1131+144dup
XM_017009111.2:c.1106-4950_1106-4946dup (SRFBP1)	XP_016864600.2:n.1106-4950_1106-4946dup
NM_002317.7:c.1131+140_1131+144dup (LOX) MANE Select	NP_002308.2:n.1131+140_1131+144dup