Canonical Allele Identifier: CA2580072429

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122074023_122074024dup , CM000667.2:g.122074023_122074024dup	GRCh38
NC_000005.9:g.121409718_121409719dup , CM000667.1:g.121409718_121409719dup	GRCh37
NC_000005.8:g.121437617_121437618dup	NCBI36
NG_008722.1:g.9337_9338dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1024_1025dup (LOX) MANE Select	ENSP00000231004.4:p.Gln345HisfsTer4
ENST00000639739.2:c.*216_*217dup (LOX)	ENSP00000492324.2:n.*216_*217dup
ENST00000231004.4:c.1024_1025dup (LOX)	ENSP00000231004.4:p.Gln345HisfsTer4
ENST00000503759.5:n.615_616dup (LOX)
ENST00000504881.1:n.312-1292_312-1291dup (SRFBP1)
ENST00000505593.5:n.350_351dup (LOX)
ENST00000508067.1:c.402_403dup (LOX)	ENSP00000427538.1:n.402_403dup
ENST00000513319.5:n.367_368dup (LOX)
NM_001178102.1:c.334_335dup (LOX)	NP_001171573.1:p.Gln115HisfsTer4
NM_001178102.2:c.334_335dup (LOX)	NP_001171573.1:p.Gln115HisfsTer4
NM_001317073.1:c.133_134dup (LOX)	NP_001304002.1:p.Gln48HisfsTer4
NM_002317.5:c.1024_1025dup (LOX)	NP_002308.2:p.Gln345HisfsTer4
NM_002317.6:c.1024_1025dup (LOX)	NP_002308.2:p.Gln345HisfsTer4
XM_017009111.2:c.1106-1292_1106-1291dup (SRFBP1)	XP_016864600.2:n.1106-1292_1106-1291dup
NM_002317.7:c.1024_1025dup (LOX) MANE Select	NP_002308.2:p.Gln345HisfsTer4