Canonical Allele Identifier: CA258857
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587305
ClinVar RCV Id: RCV000021498
dbSNP Id: rs104886226

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108655415del , CM000685.2:g.108655415del GRCh38
NC_000023.10:g.107898645del , CM000685.1:g.107898645del GRCh37
NC_000023.9:g.107785301del NCBI36
NG_011977.1:g.220492del
NG_011977.2:g.220492del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.3331del VV NP_000486.1:p.Thr1111ProfsTer?
NM_033380.2:c.3331del VV NP_203699.1:p.Thr1111ProfsTer?
XM_005262070.2:c.3331del XP_005262127.1:p.Thr1111ProfsTer?
XM_006724616.2:c.3331del XP_006724679.1:p.Thr1111ProfsTer?
XM_011530849.1:c.3007del XP_011529151.1:p.Thr1003ProfsTer?
XM_011530850.1:c.3331del XP_011529152.1:p.Thr1111ProfsTer?
XM_011530851.1:c.904del XP_011529153.1:p.Thr302ProfsTer?
XM_011530849.2:c.3346del XP_011529151.2:p.Thr1116ProfsTer?
XM_017029259.2:c.3346del XP_016884748.1:p.Thr1116ProfsTer?
XM_017029260.1:c.3346del XP_016884749.1:p.Thr1116ProfsTer?
XM_017029261.1:c.3346del XP_016884750.1:p.Thr1116ProfsTer?
XM_017029262.2:c.3346del XP_016884751.1:p.Thr1116ProfsTer?
XM_017029263.2:c.1666del XP_016884752.1:p.Thr556ProfsTer?
ENST00000328300.10:c.3331del ENSP00000331902.6:p.Thr1111ProfsTer?
ENST00000361603.6:c.3331del ENSP00000354505.2:p.Thr1111ProfsTer?