Canonical Allele Identifier: CA1129894923
Gene: COL5A1 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843171_134843172insTTTGGG , CM000671.2:g.134843171_134843172insTTTGGG GRCh38
NC_000009.11:g.137735017_137735018insTTTGGG , CM000671.1:g.137735017_137735018insTTTGGG GRCh37
NC_000009.10:g.136874838_136874839insTTTGGG NCBI36
NG_008030.1:g.206366_206367insTTTGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.*868_*869insTTTGGG ENSP00000360885.4:n.*868_*869insTTTGGG
ENST00000371817.8:c.*868_*869insTTTGGG MANE Select ENSP00000360882.3:n.*868_*869insTTTGGG
ENST00000371817.7:c.*868_*869insTTTGGG ENSP00000360882.3:n.*868_*869insTTTGGG
ENST00000618395.4:c.*868_*869insTTTGGG ENSP00000481360.1:n.*868_*869insTTTGGG
NM_000093.4:c.*868_*869insTTTGGG NP_000084.3:n.*868_*869insTTTGGG
NM_001278074.1:c.*868_*869insTTTGGG NP_001265003.1:n.*868_*869insTTTGGG
NR_103451.2:n.71-22963_71-22962insCCCAAA
NM_000093.5:c.*868_*869insTTTGGG MANE Select NP_000084.3:n.*868_*869insTTTGGG
Search 100 bp 5'
Search 100 bp 3'