Canonical Allele Identifier: CA2674996353

Gene: LOX SRFBP1

Linked Data

• gnomAD v4: 5-122070157-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070160del , CM000667.2:g.122070160del	GRCh38
NC_000005.9:g.121405855del , CM000667.1:g.121405855del	GRCh37
NC_000005.8:g.121433754del	NCBI36
NG_008722.1:g.13203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1142del (LOX) MANE Select	ENSP00000231004.4:p.Asn381ThrfsTer?
ENST00000639739.2:c.*334del (LOX)	ENSP00000492324.2:n.*334del
ENST00000231004.4:c.1142del (LOX)	ENSP00000231004.4:p.Asn381ThrfsTer?
ENST00000503759.5:n.733del (LOX)
ENST00000504881.1:n.312-5155del (SRFBP1)
ENST00000505593.5:n.468del (LOX)
ENST00000513319.5:n.485del (LOX)
NM_001178102.1:c.452del (LOX)	NP_001171573.1:p.Asn151ThrfsTer?
NM_001178102.2:c.452del (LOX)	NP_001171573.1:p.Asn151ThrfsTer?
NM_001317073.1:c.251del (LOX)	NP_001304002.1:p.Asn84ThrfsTer?
NM_002317.5:c.1142del (LOX)	NP_002308.2:p.Asn381ThrfsTer?
NM_002317.6:c.1142del (LOX)	NP_002308.2:p.Asn381ThrfsTer?
XM_017009111.2:c.1106-5155del (SRFBP1)	XP_016864600.2:n.1106-5155del
NM_002317.7:c.1142del (LOX) MANE Select	NP_002308.2:p.Asn381ThrfsTer?