Canonical Allele Identifier: CA201120804
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1554727640

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843172_134843173insAGGG , CM000671.2:g.134843172_134843173insAGGG GRCh38
NC_000009.11:g.137735018_137735019insAGGG , CM000671.1:g.137735018_137735019insAGGG GRCh37
NC_000009.10:g.136874839_136874840insAGGG NCBI36
NG_008030.1:g.206367_206368insAGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.*869_*870insAGGG ENSP00000360885.4:n.*869_*870insAGGG
ENST00000371817.8:c.*869_*870insAGGG MANE Select ENSP00000360882.3:n.*869_*870insAGGG
ENST00000371817.7:c.*869_*870insAGGG ENSP00000360882.3:n.*869_*870insAGGG
ENST00000618395.4:c.*869_*870insAGGG ENSP00000481360.1:n.*869_*870insAGGG
NM_000093.4:c.*869_*870insAGGG NP_000084.3:n.*869_*870insAGGG
NM_001278074.1:c.*869_*870insAGGG NP_001265003.1:n.*869_*870insAGGG
NR_103451.2:n.71-22964_71-22963insCCCT
NM_000093.5:c.*869_*870insAGGG MANE Select NP_000084.3:n.*869_*870insAGGG