Canonical Allele Identifier: CA2578388466

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070174_122070175del , CM000667.2:g.122070174_122070175del	GRCh38
NC_000005.9:g.121405869_121405870del , CM000667.1:g.121405869_121405870del	GRCh37
NC_000005.8:g.121433768_121433769del	NCBI36
NG_008722.1:g.13186_13187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1132-7_1132-6del (LOX) MANE Select	ENSP00000231004.4:n.1132-7_1132-6del
ENST00000639739.2:c.*324-7_*324-6del (LOX)	ENSP00000492324.2:n.*324-7_*324-6del
ENST00000231004.4:c.1132-7_1132-6del (LOX)	ENSP00000231004.4:n.1132-7_1132-6del
ENST00000503759.5:n.723-7_723-6del (LOX)
ENST00000504881.1:n.312-5141_312-5140del (SRFBP1)
ENST00000505593.5:n.458-7_458-6del (LOX)
ENST00000513319.5:n.475-7_475-6del (LOX)
NM_001178102.1:c.442-7_442-6del (LOX)	NP_001171573.1:n.442-7_442-6del
NM_001178102.2:c.442-7_442-6del (LOX)	NP_001171573.1:n.442-7_442-6del
NM_001317073.1:c.241-7_241-6del (LOX)	NP_001304002.1:n.241-7_241-6del
NM_002317.5:c.1132-7_1132-6del (LOX)	NP_002308.2:n.1132-7_1132-6del
NM_002317.6:c.1132-7_1132-6del (LOX)	NP_002308.2:n.1132-7_1132-6del
XM_017009111.2:c.1106-5141_1106-5140del (SRFBP1)	XP_016864600.2:n.1106-5141_1106-5140del
NM_002317.7:c.1132-7_1132-6del (LOX) MANE Select	NP_002308.2:n.1132-7_1132-6del