Canonical Allele Identifier: CA10626833
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365761
ClinVar RCV Id: RCV000302092
dbSNP Id: rs57599653
gnomAD v2: 9-137735001-C-CT
gnomAD v3: 9-134843155-C-CT
gnomAD v4: 9-134843155-C-CT
MyVariant Identifiers: chr9:g.137735014dupT (hg19) chr9:g.137735005_137735006insT (hg19) chr9:g.137735001_137735002insT (hg19) chr9:g.134843168dupT (hg38) chr9:g.134843159_134843160insT (hg38) chr9:g.134843155_134843156insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843168dup , CM000671.2:g.134843168dup GRCh38
NC_000009.11:g.137735014dup , CM000671.1:g.137735014dup GRCh37
NC_000009.10:g.136874835dup NCBI36
NG_008030.1:g.206363dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*865dup ENSP00000360885.4:n.*865dup
ENST00000371817.8:c.*865dup MANE Select ENSP00000360882.3:n.*865dup
ENST00000371817.7:c.*865dup ENSP00000360882.3:n.*865dup
ENST00000618395.4:c.*865dup ENSP00000481360.1:n.*865dup
NM_000093.4:c.*865dup NP_000084.3:n.*865dup
NM_001278074.1:c.*865dup NP_001265003.1:n.*865dup
NR_103451.2:n.71-22947dup
NM_000093.5:c.*865dup MANE Select NP_000084.3:n.*865dup
Search 100 bp 5'
Search 100 bp 3'