Canonical Allele Identifier: CA2580617145
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572687
ClinVar RCV Id: RCV003314801
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835128dup , CM000671.2:g.134835128dup GRCh38
NC_000009.11:g.137726974dup , CM000671.1:g.137726974dup GRCh37
NC_000009.10:g.136866795dup NCBI36
NG_008030.1:g.198323dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5294dup ENSP00000360885.4:p.Phe1766LeufsTer12
ENST00000371817.8:c.5294dup MANE Select ENSP00000360882.3:p.Phe1766LeufsTer12
ENST00000371817.7:c.5294dup ENSP00000360882.3:p.Phe1766LeufsTer12
ENST00000371820.3:c.552dup
ENST00000618395.4:c.5294dup ENSP00000481360.1:p.Phe1766LeufsTer12
NM_000093.4:c.5294dup NP_000084.3:p.Phe1766LeufsTer12
NM_001278074.1:c.5294dup NP_001265003.1:p.Phe1766LeufsTer12
NR_103451.2:n.71-14919dup
NM_000093.5:c.5294dup MANE Select NP_000084.3:p.Phe1766LeufsTer12
Search 100 bp 5'
Search 100 bp 3'