Canonical Allele Identifier: CA2579677154
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687447_108687450del , CM000685.2:g.108687447_108687450del GRCh38
NC_000023.10:g.107930677_107930680del , CM000685.1:g.107930677_107930680del GRCh37
NC_000023.9:g.107817333_107817336del NCBI36
NG_011977.1:g.252524_252527del
NG_011977.2:g.252524_252527del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4316-35_4316-32del MANE Select ENSP00000331902.7:n.4316-35_4316-32del
ENST00000361603.7:c.4298-35_4298-32del ENSP00000354505.2:n.4298-35_4298-32del
ENST00000510690.2:n.810-35_810-32del
ENST00000328300.10:c.4316-35_4316-32del ENSP00000331902.6:n.4316-35_4316-32del
ENST00000361603.6:c.4298-35_4298-32del ENSP00000354505.2:n.4298-35_4298-32del
ENST00000489230.1:n.719-35_719-32del
ENST00000515658.1:c.112-35_112-32del
NM_000495.4:c.4298-35_4298-32del NP_000486.1:n.4298-35_4298-32del
NM_033380.2:c.4316-35_4316-32del NP_203699.1:n.4316-35_4316-32del
XM_005262070.2:c.4307-35_4307-32del XP_005262127.1:n.4307-35_4307-32del
XM_006724616.2:c.4316-35_4316-32del XP_006724679.1:n.4316-35_4316-32del
XM_011530849.1:c.3992-35_3992-32del XP_011529151.1:n.3992-35_3992-32del
XM_011530851.1:c.1889-35_1889-32del XP_011529153.1:n.1889-35_1889-32del
XM_011530849.2:c.4331-35_4331-32del XP_011529151.2:n.4331-35_4331-32del
XM_017029259.2:c.4322-35_4322-32del XP_016884748.1:n.4322-35_4322-32del
XM_017029260.1:c.4313-35_4313-32del XP_016884749.1:n.4313-35_4313-32del
XM_017029263.2:c.2651-35_2651-32del XP_016884752.1:n.2651-35_2651-32del
NM_000495.5:c.4298-35_4298-32del NP_000486.1:n.4298-35_4298-32del
NM_033380.3:c.4316-35_4316-32del MANE Select NP_203699.1:n.4316-35_4316-32del