Canonical Allele Identifier: CA2692462638
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134843170-A-AGAGG
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843170_134843171insGAGG , CM000671.2:g.134843170_134843171insGAGG GRCh38
NC_000009.11:g.137735016_137735017insGAGG , CM000671.1:g.137735016_137735017insGAGG GRCh37
NC_000009.10:g.136874837_136874838insGAGG NCBI36
NG_008030.1:g.206365_206366insGAGG

Transcript Alleles

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