Canonical Allele Identifier: CA2450721689
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695166_108695167delinsAC , CM000685.2:g.108695166_108695167delinsAC GRCh38
NC_000023.10:g.107938396_107938397delinsAC , CM000685.1:g.107938396_107938397delinsAC GRCh37
NC_000023.9:g.107825052_107825053delinsAC NCBI36
NG_011977.1:g.260243_260244delinsAC
NG_011977.2:g.260243_260244delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4822-101_4822-100delinsAC MANE Select ENSP00000331902.7:n.4822-101_4822-100delinsAC
ENST00000361603.7:c.4804-101_4804-100delinsAC ENSP00000354505.2:n.4804-101_4804-100delinsAC
ENST00000510690.2:n.1316-101_1316-100delinsAC
ENST00000644079.1:n.1552_1553delinsAC
ENST00000328300.10:c.4822-101_4822-100delinsAC ENSP00000331902.6:n.4822-101_4822-100delinsAC
ENST00000361603.6:c.4804-101_4804-100delinsAC ENSP00000354505.2:n.4804-101_4804-100delinsAC
ENST00000504541.1:c.219+245_219+246delinsAC ENSP00000424845.1:n.219+245_219+246delinsAC
ENST00000515658.1:c.325-1131_325-1130delinsAC
NM_000495.4:c.4804-101_4804-100delinsAC NP_000486.1:n.4804-101_4804-100delinsAC
NM_033380.2:c.4822-101_4822-100delinsAC NP_203699.1:n.4822-101_4822-100delinsAC
XM_005262070.2:c.4813-101_4813-100delinsAC XP_005262127.1:n.4813-101_4813-100delinsAC
XM_006724616.2:c.4822-101_4822-100delinsAC XP_006724679.1:n.4822-101_4822-100delinsAC
XM_011530849.1:c.4498-101_4498-100delinsAC XP_011529151.1:n.4498-101_4498-100delinsAC
XM_011530851.1:c.2395-101_2395-100delinsAC XP_011529153.1:n.2395-101_2395-100delinsAC
XM_011530849.2:c.4837-101_4837-100delinsAC XP_011529151.2:n.4837-101_4837-100delinsAC
XM_017029259.2:c.4828-101_4828-100delinsAC XP_016884748.1:n.4828-101_4828-100delinsAC
XM_017029260.1:c.4819-101_4819-100delinsAC XP_016884749.1:n.4819-101_4819-100delinsAC
XM_017029263.2:c.3157-101_3157-100delinsAC XP_016884752.1:n.3157-101_3157-100delinsAC
NM_000495.5:c.4804-101_4804-100delinsAC NP_000486.1:n.4804-101_4804-100delinsAC
NM_033380.3:c.4822-101_4822-100delinsAC MANE Select NP_203699.1:n.4822-101_4822-100delinsAC