Canonical Allele Identifier: CA201120763
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs57599653
gnomAD v2: 9-137735001-CT-C
gnomAD v3: 9-134843155-CT-C
gnomAD v4: 9-134843155-CT-C
MyVariant Identifiers: chr9:g.137735005del (hg19) chr9:g.137735002del (hg19) chr9:g.134843159del (hg38) chr9:g.134843156del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843168del , CM000671.2:g.134843168del GRCh38
NC_000009.11:g.137735014del , CM000671.1:g.137735014del GRCh37
NC_000009.10:g.136874835del NCBI36
NG_008030.1:g.206363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*865del ENSP00000360885.4:n.*865del
ENST00000371817.8:c.*865del MANE Select ENSP00000360882.3:n.*865del
ENST00000371817.7:c.*865del ENSP00000360882.3:n.*865del
ENST00000618395.4:c.*865del ENSP00000481360.1:n.*865del
NM_000093.4:c.*865del NP_000084.3:n.*865del
NM_001278074.1:c.*865del NP_001265003.1:n.*865del
NR_103451.2:n.71-22947del
NM_000093.5:c.*865del MANE Select NP_000084.3:n.*865del
Search 100 bp 5'
Search 100 bp 3'