Canonical Allele Identifier: CA2692462639
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843174_134843177dup , CM000671.2:g.134843174_134843177dup GRCh38
NC_000009.11:g.137735020_137735023dup , CM000671.1:g.137735020_137735023dup GRCh37
NC_000009.10:g.136874841_136874844dup NCBI36
NG_008030.1:g.206369_206372dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*871_*874dup ENSP00000360885.4:n.*871_*874dup
ENST00000371817.8:c.*871_*874dup MANE Select ENSP00000360882.3:n.*871_*874dup
ENST00000371817.7:c.*871_*874dup ENSP00000360882.3:n.*871_*874dup
ENST00000618395.4:c.*871_*874dup ENSP00000481360.1:n.*871_*874dup
NM_000093.4:c.*871_*874dup NP_000084.3:n.*871_*874dup
NM_001278074.1:c.*871_*874dup NP_001265003.1:n.*871_*874dup
NR_103451.2:n.71-22968_71-22965dup
NM_000093.5:c.*871_*874dup MANE Select NP_000084.3:n.*871_*874dup