Canonical Allele Identifier: CA2450697371
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108624369_108624370delinsGC , CM000685.2:g.108624369_108624370delinsGC GRCh38
NC_000023.10:g.107867599_107867600delinsGC , CM000685.1:g.107867599_107867600delinsGC GRCh37
NC_000023.9:g.107754255_107754256delinsGC NCBI36
NG_011977.1:g.189446_189447delinsGC
NG_011977.2:g.189446_189447delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3016+35_3016+36delinsGC MANE Select ENSP00000331902.7:n.3016+35_3016+36delinsGC
ENST00000361603.7:c.3016+35_3016+36delinsGC ENSP00000354505.2:n.3016+35_3016+36delinsGC
ENST00000328300.10:c.3016+35_3016+36delinsGC ENSP00000331902.6:n.3016+35_3016+36delinsGC
ENST00000361603.6:c.3016+35_3016+36delinsGC ENSP00000354505.2:n.3016+35_3016+36delinsGC
ENST00000483338.1:n.2472+35_2472+36delinsGC
ENST00000505728.1:c.249+35_249+36delinsGC
NM_000495.4:c.3016+35_3016+36delinsGC NP_000486.1:n.3016+35_3016+36delinsGC
NM_033380.2:c.3016+35_3016+36delinsGC NP_203699.1:n.3016+35_3016+36delinsGC
XM_005262070.2:c.3016+35_3016+36delinsGC XP_005262127.1:n.3016+35_3016+36delinsGC
XM_005262072.3:c.3016+35_3016+36delinsGC XP_005262129.1:n.3016+35_3016+36delinsGC
XM_006724616.2:c.3016+35_3016+36delinsGC XP_006724679.1:n.3016+35_3016+36delinsGC
XM_011530849.1:c.2692+35_2692+36delinsGC XP_011529151.1:n.2692+35_2692+36delinsGC
XM_011530850.1:c.3016+35_3016+36delinsGC XP_011529152.1:n.3016+35_3016+36delinsGC
XM_011530851.1:c.589+35_589+36delinsGC XP_011529153.1:n.589+35_589+36delinsGC
XM_011530849.2:c.3031+35_3031+36delinsGC XP_011529151.2:n.3031+35_3031+36delinsGC
XM_017029259.2:c.3031+35_3031+36delinsGC XP_016884748.1:n.3031+35_3031+36delinsGC
XM_017029260.1:c.3031+35_3031+36delinsGC XP_016884749.1:n.3031+35_3031+36delinsGC
XM_017029261.1:c.3031+35_3031+36delinsGC XP_016884750.1:n.3031+35_3031+36delinsGC
XM_017029262.2:c.3031+35_3031+36delinsGC XP_016884751.1:n.3031+35_3031+36delinsGC
XM_017029263.2:c.1351+35_1351+36delinsGC XP_016884752.1:n.1351+35_1351+36delinsGC
NM_000495.5:c.3016+35_3016+36delinsGC NP_000486.1:n.3016+35_3016+36delinsGC
NM_033380.3:c.3016+35_3016+36delinsGC MANE Select NP_203699.1:n.3016+35_3016+36delinsGC