Canonical Allele Identifier: CA2720500435
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1830153322
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843171_134843172insGGG , CM000671.2:g.134843171_134843172insGGG GRCh38
NC_000009.11:g.137735017_137735018insGGG , CM000671.1:g.137735017_137735018insGGG GRCh37
NC_000009.10:g.136874838_136874839insGGG NCBI36
NG_008030.1:g.206366_206367insGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*868_*869insGGG ENSP00000360885.4:n.*868_*869insGGG
ENST00000371817.8:c.*868_*869insGGG MANE Select ENSP00000360882.3:n.*868_*869insGGG
ENST00000371817.7:c.*868_*869insGGG ENSP00000360882.3:n.*868_*869insGGG
ENST00000618395.4:c.*868_*869insGGG ENSP00000481360.1:n.*868_*869insGGG
NM_000093.4:c.*868_*869insGGG NP_000084.3:n.*868_*869insGGG
NM_001278074.1:c.*868_*869insGGG NP_001265003.1:n.*868_*869insGGG
NR_103451.2:n.71-22963_71-22962insCCC
NM_000093.5:c.*868_*869insGGG MANE Select NP_000084.3:n.*868_*869insGGG
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