Canonical Allele Identifier: CA2580100195
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1726077
ClinVar RCV Id: RCV002307048

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108621818_108621822del , CM000685.2:g.108621818_108621822del GRCh38
NC_000023.10:g.107865048_107865052del , CM000685.1:g.107865048_107865052del GRCh37
NC_000023.9:g.107751704_107751708del NCBI36
NG_011977.1:g.186895_186899del
NG_011977.2:g.186895_186899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2693_2697del MANE Select ENSP00000331902.7:p.Met898AsnfsTer23
ENST00000361603.7:c.2693_2697del ENSP00000354505.2:p.Met898AsnfsTer23
ENST00000328300.10:c.2693_2697del ENSP00000331902.6:p.Met898AsnfsTer23
ENST00000361603.6:c.2693_2697del ENSP00000354505.2:p.Met898AsnfsTer23
ENST00000483338.1:n.2149_2153del
NM_000495.4:c.2693_2697del NP_000486.1:p.Met898AsnfsTer23
NM_033380.2:c.2693_2697del NP_203699.1:p.Met898AsnfsTer23
XM_005262070.2:c.2693_2697del XP_005262127.1:p.Met898AsnfsTer23
XM_005262072.3:c.2693_2697del XP_005262129.1:p.Met898AsnfsTer23
XM_006724616.2:c.2693_2697del XP_006724679.1:p.Met898AsnfsTer23
XM_011530849.1:c.2369_2373del XP_011529151.1:p.Met790AsnfsTer23
XM_011530850.1:c.2693_2697del XP_011529152.1:p.Met898AsnfsTer23
XM_011530851.1:c.266_270del XP_011529153.1:p.Met89AsnfsTer23
XM_011530849.2:c.2708_2712del XP_011529151.2:p.Met903AsnfsTer23
XM_017029259.2:c.2708_2712del XP_016884748.1:p.Met903AsnfsTer23
XM_017029260.1:c.2708_2712del XP_016884749.1:p.Met903AsnfsTer23
XM_017029261.1:c.2708_2712del XP_016884750.1:p.Met903AsnfsTer23
XM_017029262.2:c.2708_2712del XP_016884751.1:p.Met903AsnfsTer23
XM_017029263.2:c.1028_1032del XP_016884752.1:p.Met343AsnfsTer23
NM_000495.5:c.2693_2697del NP_000486.1:p.Met898AsnfsTer23
NM_033380.3:c.2693_2697del MANE Select NP_203699.1:p.Met898AsnfsTer23