Canonical Allele Identifier: CA1578376384

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070349_122070354delinsCAGATT , CM000667.2:g.122070349_122070354delinsCAGATT	GRCh38
NC_000005.9:g.121406044_121406049delinsCAGATT , CM000667.1:g.121406044_121406049delinsCAGATT	GRCh37
NC_000005.8:g.121433943_121433948delinsCAGATT	NCBI36
NG_008722.1:g.13007_13012delinsAATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1131+140_1131+145delinsAATCTG (LOX) MANE Select	ENSP00000231004.4:n.1131+140_1131+145delinsAATCTG
ENST00000639739.2:c.*323+140_*323+145delinsAATCTG (LOX)	ENSP00000492324.2:n.*323+140_*323+145delinsAATCTG
ENST00000231004.4:c.1131+140_1131+145delinsAATCTG (LOX)	ENSP00000231004.4:n.1131+140_1131+145delinsAATCTG
ENST00000503759.5:n.722+140_722+145delinsAATCTG (LOX)
ENST00000504881.1:n.312-4966_312-4961delinsCAGATT (SRFBP1)
ENST00000505593.5:n.457+140_457+145delinsAATCTG (LOX)
ENST00000513319.5:n.474+140_474+145delinsAATCTG (LOX)
NM_001178102.1:c.441+140_441+145delinsAATCTG (LOX)	NP_001171573.1:n.441+140_441+145delinsAATCTG
NM_001178102.2:c.441+140_441+145delinsAATCTG (LOX)	NP_001171573.1:n.441+140_441+145delinsAATCTG
NM_001317073.1:c.240+140_240+145delinsAATCTG (LOX)	NP_001304002.1:n.240+140_240+145delinsAATCTG
NM_002317.5:c.1131+140_1131+145delinsAATCTG (LOX)	NP_002308.2:n.1131+140_1131+145delinsAATCTG
NM_002317.6:c.1131+140_1131+145delinsAATCTG (LOX)	NP_002308.2:n.1131+140_1131+145delinsAATCTG
XM_017009111.2:c.1106-4966_1106-4961delinsCAGATT (SRFBP1)	XP_016864600.2:n.1106-4966_1106-4961delinsCAGATT
NM_002317.7:c.1131+140_1131+145delinsAATCTG (LOX) MANE Select	NP_002308.2:n.1131+140_1131+145delinsAATCTG