Canonical Allele Identifier: CA10626839
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365763
ClinVar RCV Id: RCV000262004
dbSNP Id: rs1554727637
MyVariant Identifiers: chr9:g.137735016_137735017insATAGG (hg19) chr9:g.134843170_134843171insATAGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843170_134843171insATAGG , CM000671.2:g.134843170_134843171insATAGG GRCh38
NC_000009.11:g.137735016_137735017insATAGG , CM000671.1:g.137735016_137735017insATAGG GRCh37
NC_000009.10:g.136874837_136874838insATAGG NCBI36
NG_008030.1:g.206365_206366insATAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*867_*868insATAGG ENSP00000360885.4:n.*867_*868insATAGG
ENST00000371817.8:c.*867_*868insATAGG MANE Select ENSP00000360882.3:n.*867_*868insATAGG
ENST00000371817.7:c.*867_*868insATAGG ENSP00000360882.3:n.*867_*868insATAGG
ENST00000618395.4:c.*867_*868insATAGG ENSP00000481360.1:n.*867_*868insATAGG
NM_000093.4:c.*867_*868insATAGG NP_000084.3:n.*867_*868insATAGG
NM_001278074.1:c.*867_*868insATAGG NP_001265003.1:n.*867_*868insATAGG
NR_103451.2:n.71-22962_71-22961insCCTAT
NM_000093.5:c.*867_*868insATAGG MANE Select NP_000084.3:n.*867_*868insATAGG
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