Canonical Allele Identifier: CA201120803
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1554727641

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843175_134843176insGGGG , CM000671.2:g.134843175_134843176insGGGG GRCh38
NC_000009.11:g.137735021_137735022insGGGG , CM000671.1:g.137735021_137735022insGGGG GRCh37
NC_000009.10:g.136874842_136874843insGGGG NCBI36
NG_008030.1:g.206370_206371insGGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.*872_*873insGGGG ENSP00000360885.4:n.*872_*873insGGGG
ENST00000371817.8:c.*872_*873insGGGG MANE Select ENSP00000360882.3:n.*872_*873insGGGG
ENST00000371817.7:c.*872_*873insGGGG ENSP00000360882.3:n.*872_*873insGGGG
ENST00000618395.4:c.*872_*873insGGGG ENSP00000481360.1:n.*872_*873insGGGG
NM_000093.4:c.*872_*873insGGGG NP_000084.3:n.*872_*873insGGGG
NM_001278074.1:c.*872_*873insGGGG NP_001265003.1:n.*872_*873insGGGG
NR_103451.2:n.71-22964_71-22963insCCCC
NM_000093.5:c.*872_*873insGGGG MANE Select NP_000084.3:n.*872_*873insGGGG