Canonical Allele Identifier: CA334062955
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886422

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694850_108694856del , CM000685.2:g.108694850_108694856del GRCh38
NC_000023.10:g.107938080_107938086del , CM000685.1:g.107938080_107938086del GRCh37
NC_000023.9:g.107824736_107824742del NCBI36
NG_011977.1:g.259927_259933del
NG_011977.2:g.259927_259933del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4750_4756del MANE Select ENSP00000331902.7:p.Ser1584ArgfsTer21
ENST00000361603.7:c.4732_4738del ENSP00000354505.2:p.Ser1578ArgfsTer21
ENST00000510690.2:n.1244_1250del
ENST00000644079.1:n.1236_1242del
ENST00000328300.10:c.4750_4756del ENSP00000331902.6:p.Ser1584ArgfsTer21
ENST00000361603.6:c.4732_4738del ENSP00000354505.2:p.Ser1578ArgfsTer21
ENST00000504541.1:c.148_154del ENSP00000424845.1:p.Ser50ArgfsTer21
ENST00000515658.1:c.325-1447_325-1441del
NM_000495.4:c.4732_4738del NP_000486.1:p.Ser1578ArgfsTer21
NM_033380.2:c.4750_4756del NP_203699.1:p.Ser1584ArgfsTer21
XM_005262070.2:c.4741_4747del XP_005262127.1:p.Ser1581ArgfsTer21
XM_006724616.2:c.4750_4756del XP_006724679.1:p.Ser1584ArgfsTer21
XM_011530849.1:c.4426_4432del XP_011529151.1:p.Ser1476ArgfsTer21
XM_011530851.1:c.2323_2329del XP_011529153.1:p.Ser775ArgfsTer21
XM_011530849.2:c.4765_4771del XP_011529151.2:p.Ser1589ArgfsTer21
XM_017029259.2:c.4756_4762del XP_016884748.1:p.Ser1586ArgfsTer21
XM_017029260.1:c.4747_4753del XP_016884749.1:p.Ser1583ArgfsTer21
XM_017029263.2:c.3085_3091del XP_016884752.1:p.Ser1029ArgfsTer21
NM_000495.5:c.4732_4738del NP_000486.1:p.Ser1578ArgfsTer21
NM_033380.3:c.4750_4756del MANE Select NP_203699.1:p.Ser1584ArgfsTer21