Canonical Allele Identifier: CA1129894926
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v3: 9-134843171-T-TTAGGG
gnomAD v4: 9-134843171-T-TTAGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843171_134843172insTAGGG , CM000671.2:g.134843171_134843172insTAGGG GRCh38
NC_000009.11:g.137735017_137735018insTAGGG , CM000671.1:g.137735017_137735018insTAGGG GRCh37
NC_000009.10:g.136874838_136874839insTAGGG NCBI36
NG_008030.1:g.206366_206367insTAGGG

Transcript Alleles

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