Canonical Allele Identifier: CA803031406

Gene: LOX SRFBP1

Linked Data

• dbSNP Id: rs1314282194
• gnomAD v3: 5-122070373-TATAA-T
• gnomAD v4: 5-122070373-TATAA-T
• MyVariant Identifiers: chr5:g.121406069_121406072del (hg19) ; chr5:g.122070374_122070377del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070377_122070380del , CM000667.2:g.122070377_122070380del	GRCh38
NC_000005.9:g.121406072_121406075del , CM000667.1:g.121406072_121406075del	GRCh37
NC_000005.8:g.121433971_121433974del	NCBI36
NG_008722.1:g.12984_12987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1131+117_1131+120del (LOX) MANE Select	ENSP00000231004.4:n.1131+117_1131+120del
ENST00000639739.2:c.*323+117_*323+120del (LOX)	ENSP00000492324.2:n.*323+117_*323+120del
ENST00000231004.4:c.1131+117_1131+120del (LOX)	ENSP00000231004.4:n.1131+117_1131+120del
ENST00000503759.5:n.722+117_722+120del (LOX)
ENST00000504881.1:n.312-4938_312-4935del (SRFBP1)
ENST00000505593.5:n.457+117_457+120del (LOX)
ENST00000513319.5:n.474+117_474+120del (LOX)
NM_001178102.1:c.441+117_441+120del (LOX)	NP_001171573.1:n.441+117_441+120del
NM_001178102.2:c.441+117_441+120del (LOX)	NP_001171573.1:n.441+117_441+120del
NM_001317073.1:c.240+117_240+120del (LOX)	NP_001304002.1:n.240+117_240+120del
NM_002317.5:c.1131+117_1131+120del (LOX)	NP_002308.2:n.1131+117_1131+120del
NM_002317.6:c.1131+117_1131+120del (LOX)	NP_002308.2:n.1131+117_1131+120del
XM_017009111.2:c.1106-4938_1106-4935del (SRFBP1)	XP_016864600.2:n.1106-4938_1106-4935del
NM_002317.7:c.1131+117_1131+120del (LOX) MANE Select	NP_002308.2:n.1131+117_1131+120del