Canonical Allele Identifier: CA2450697383
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108624397_108624398delinsAT , CM000685.2:g.108624397_108624398delinsAT GRCh38
NC_000023.10:g.107867627_107867628delinsAT , CM000685.1:g.107867627_107867628delinsAT GRCh37
NC_000023.9:g.107754283_107754284delinsAT NCBI36
NG_011977.1:g.189474_189475delinsAT
NG_011977.2:g.189474_189475delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3016+63_3016+64delinsAT MANE Select ENSP00000331902.7:n.3016+63_3016+64delinsAT
ENST00000361603.7:c.3016+63_3016+64delinsAT ENSP00000354505.2:n.3016+63_3016+64delinsAT
ENST00000328300.10:c.3016+63_3016+64delinsAT ENSP00000331902.6:n.3016+63_3016+64delinsAT
ENST00000361603.6:c.3016+63_3016+64delinsAT ENSP00000354505.2:n.3016+63_3016+64delinsAT
ENST00000483338.1:n.2472+63_2472+64delinsAT
ENST00000505728.1:c.249+63_249+64delinsAT
NM_000495.4:c.3016+63_3016+64delinsAT NP_000486.1:n.3016+63_3016+64delinsAT
NM_033380.2:c.3016+63_3016+64delinsAT NP_203699.1:n.3016+63_3016+64delinsAT
XM_005262070.2:c.3016+63_3016+64delinsAT XP_005262127.1:n.3016+63_3016+64delinsAT
XM_005262072.3:c.3016+63_3016+64delinsAT XP_005262129.1:n.3016+63_3016+64delinsAT
XM_006724616.2:c.3016+63_3016+64delinsAT XP_006724679.1:n.3016+63_3016+64delinsAT
XM_011530849.1:c.2692+63_2692+64delinsAT XP_011529151.1:n.2692+63_2692+64delinsAT
XM_011530850.1:c.3016+63_3016+64delinsAT XP_011529152.1:n.3016+63_3016+64delinsAT
XM_011530851.1:c.589+63_589+64delinsAT XP_011529153.1:n.589+63_589+64delinsAT
XM_011530849.2:c.3031+63_3031+64delinsAT XP_011529151.2:n.3031+63_3031+64delinsAT
XM_017029259.2:c.3031+63_3031+64delinsAT XP_016884748.1:n.3031+63_3031+64delinsAT
XM_017029260.1:c.3031+63_3031+64delinsAT XP_016884749.1:n.3031+63_3031+64delinsAT
XM_017029261.1:c.3031+63_3031+64delinsAT XP_016884750.1:n.3031+63_3031+64delinsAT
XM_017029262.2:c.3031+63_3031+64delinsAT XP_016884751.1:n.3031+63_3031+64delinsAT
XM_017029263.2:c.1351+63_1351+64delinsAT XP_016884752.1:n.1351+63_1351+64delinsAT
NM_000495.5:c.3016+63_3016+64delinsAT NP_000486.1:n.3016+63_3016+64delinsAT
NM_033380.3:c.3016+63_3016+64delinsAT MANE Select NP_203699.1:n.3016+63_3016+64delinsAT