Canonical Allele Identifier: CA2450716853
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680764_108680765delinsAT , CM000685.2:g.108680764_108680765delinsAT GRCh38
NC_000023.10:g.107923994_107923995delinsAT , CM000685.1:g.107923994_107923995delinsAT GRCh37
NC_000023.9:g.107810650_107810651delinsAT NCBI36
NG_011977.1:g.245841_245842delinsAT
NG_011977.2:g.245841_245842delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4015+13_4015+14delinsAT MANE Select ENSP00000331902.7:n.4015+13_4015+14delinsAT
ENST00000361603.7:c.3997+13_3997+14delinsAT ENSP00000354505.2:n.3997+13_3997+14delinsAT
ENST00000510690.2:n.509+13_509+14delinsAT
ENST00000328300.10:c.4015+13_4015+14delinsAT ENSP00000331902.6:n.4015+13_4015+14delinsAT
ENST00000361603.6:c.3997+13_3997+14delinsAT ENSP00000354505.2:n.3997+13_3997+14delinsAT
ENST00000489230.1:n.418+13_418+14delinsAT
NM_000495.4:c.3997+13_3997+14delinsAT NP_000486.1:n.3997+13_3997+14delinsAT
NM_033380.2:c.4015+13_4015+14delinsAT NP_203699.1:n.4015+13_4015+14delinsAT
XM_005262070.2:c.4006+13_4006+14delinsAT XP_005262127.1:n.4006+13_4006+14delinsAT
XM_006724616.2:c.4015+13_4015+14delinsAT XP_006724679.1:n.4015+13_4015+14delinsAT
XM_011530849.1:c.3691+13_3691+14delinsAT XP_011529151.1:n.3691+13_3691+14delinsAT
XM_011530851.1:c.1588+13_1588+14delinsAT XP_011529153.1:n.1588+13_1588+14delinsAT
XM_011530849.2:c.4030+13_4030+14delinsAT XP_011529151.2:n.4030+13_4030+14delinsAT
XM_017029259.2:c.4021+13_4021+14delinsAT XP_016884748.1:n.4021+13_4021+14delinsAT
XM_017029260.1:c.4012+13_4012+14delinsAT XP_016884749.1:n.4012+13_4012+14delinsAT
XM_017029263.2:c.2350+13_2350+14delinsAT XP_016884752.1:n.2350+13_2350+14delinsAT
NM_000495.5:c.3997+13_3997+14delinsAT NP_000486.1:n.3997+13_3997+14delinsAT
NM_033380.3:c.4015+13_4015+14delinsAT MANE Select NP_203699.1:n.4015+13_4015+14delinsAT