Canonical Allele Identifier: CA467652881
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426926
dbSNP Id: rs1085307855
COSMIC: COSM295320

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750549del , CM000671.2:g.134750549del GRCh38
NC_000009.11:g.137642395del , CM000671.1:g.137642395del GRCh37
NC_000009.10:g.136782216del NCBI36
NG_008030.1:g.113744del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1502del ENSP00000360885.4:p.Pro501LeufsTer?
ENST00000371817.8:c.1502del MANE Select ENSP00000360882.3:p.Pro501LeufsTer?
ENST00000371817.7:c.1502del ENSP00000360882.3:p.Pro501LeufsTer?
ENST00000618395.4:c.1502del ENSP00000481360.1:p.Pro501LeufsTer?
NM_000093.4:c.1502del NP_000084.3:p.Pro501LeufsTer?
NM_001278074.1:c.1502del NP_001265003.1:p.Pro501LeufsTer?
XR_929712.1:n.1904del
XR_929713.1:n.1904del
XM_017014266.2:c.1502del XP_016869755.1:p.Pro501LeufsTer?
XR_001746183.1:n.1900del
NM_000093.5:c.1502del MANE Select NP_000084.3:p.Pro501LeufsTer?