Canonical Allele Identifier: CA16618096
Gene: LOX HGNC NCBI
SRFBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424133
ClinVar RCV Id: RCV000480095
dbSNP Id: rs1064796814
MyVariant Identifiers: chr5:g.121406183_121406188del (hg19) chr5:g.122070488_122070493del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.122070493_122070498del , CM000667.2:g.122070493_122070498del GRCh38
NC_000005.9:g.121406188_121406193del , CM000667.1:g.121406188_121406193del GRCh37
NC_000005.8:g.121434087_121434092del NCBI36
NG_008722.1:g.12868_12873del

Transcript Alleles

HGVS Amino-acid change
ENST00000231004.5:c.1131+1_1131+6del (LOX)
ENST00000639739.2:c.*323+1_*323+6del (LOX)
ENST00000231004.4:c.1131+1_1131+6del (LOX)
ENST00000503759.5:n.722+1_722+6del (LOX)
ENST00000504881.1:n.312-4822_312-4817del (SRFBP1)
ENST00000505593.5:n.457+1_457+6del (LOX)
ENST00000513319.5:n.474+1_474+6del (LOX)
NM_001178102.1:c.441+1_441+6del (LOX)
NM_001178102.2:c.441+1_441+6del (LOX)
NM_001317073.1:c.240+1_240+6del (LOX)
NM_002317.5:c.1131+1_1131+6del (LOX)
NM_002317.6:c.1131+1_1131+6del (LOX)
XM_017009111.2:c.1106-4822_1106-4817del (SRFBP1) XP_016864600.2:n.1106-4822_1106-4817del
NM_002317.7:c.1131+1_1131+6del (LOX)
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