Canonical Allele Identifier: CA16612598
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409087
ClinVar RCV Id: RCV002230820
dbSNP Id: rs1060502242
MyVariant Identifiers: chr9:g.137582876_137582877del (hg19) chr9:g.134691030_134691031del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134691030_134691031del , CM000671.2:g.134691030_134691031del GRCh38
NC_000009.11:g.137582876_137582877del , CM000671.1:g.137582876_137582877del GRCh37
NC_000009.10:g.136722697_136722698del NCBI36
NG_008030.1:g.54225_54226del

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.228_229del ENSP00000360885.4:p.Arg76SerfsTer?
ENST00000371817.8:c.228_229del MANE Select ENSP00000360882.3:p.Arg76SerfsTer?
ENST00000371817.7:c.228_229del ENSP00000360882.3:p.Arg76SerfsTer?
ENST00000464187.1:n.414_415del
ENST00000618395.4:c.228_229del ENSP00000481360.1:p.Arg76SerfsTer?
NM_000093.4:c.228_229del NP_000084.3:p.Arg76SerfsTer?
NM_001278074.1:c.228_229del NP_001265003.1:p.Arg76SerfsTer?
XR_929712.1:n.630_631del
XR_929713.1:n.630_631del
XM_017014266.2:c.228_229del XP_016869755.1:p.Arg76SerfsTer?
XR_001746183.1:n.626_627del
NM_000093.5:c.228_229del MANE Select NP_000084.3:p.Arg76SerfsTer?
Search 100 bp 5'
Search 100 bp 3'