Canonical Allele Identifier: CA2694440412
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108624396_108624397insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA , CM000685.2:g.108624396_108624397insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA GRCh38
NC_000023.10:g.107867626_107867627insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA , CM000685.1:g.107867626_107867627insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA GRCh37
NC_000023.9:g.107754282_107754283insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA NCBI36
NG_011977.1:g.189473_189474insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA
NG_011977.2:g.189473_189474insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA MANE Select ENSP00000331902.7:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACC...
ENST00000361603.7:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA ENSP00000354505.2:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACC...
ENST00000328300.10:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA ENSP00000331902.6:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACC...
ENST00000361603.6:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA ENSP00000354505.2:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACC...
ENST00000483338.1:n.2472+62_2472+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA
ENST00000505728.1:c.249+62_249+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA
NM_000495.4:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA NP_000486.1:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCT...
NM_033380.2:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA NP_203699.1:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCT...
XM_005262070.2:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_005262127.1:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_005262072.3:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_005262129.1:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_006724616.2:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_006724679.1:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_011530849.1:c.2692+62_2692+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_011529151.1:n.2692+62_2692+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_011530850.1:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_011529152.1:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_011530851.1:c.589+62_589+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_011529153.1:n.589+62_589+63insTTTTATATCAAAAAGAAGTTACCTAGCC...
XM_011530849.2:c.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_011529151.2:n.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_017029259.2:c.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_016884748.1:n.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_017029260.1:c.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_016884749.1:n.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_017029261.1:c.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_016884750.1:n.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_017029262.2:c.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_016884751.1:n.3031+62_3031+63insTTTTATATCAAAAAGAAGTTACCTAG...
XM_017029263.2:c.1351+62_1351+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA XP_016884752.1:n.1351+62_1351+63insTTTTATATCAAAAAGAAGTTACCTAG...
NM_000495.5:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA NP_000486.1:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCT...
NM_033380.3:c.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCTTTGCAA MANE Select NP_203699.1:n.3016+62_3016+63insTTTTATATCAAAAAGAAGTTACCTAGCCT...