Canonical Allele Identifier: CA2450721660
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695072_108695073delinsAT , CM000685.2:g.108695072_108695073delinsAT GRCh38
NC_000023.10:g.107938302_107938303delinsAT , CM000685.1:g.107938302_107938303delinsAT GRCh37
NC_000023.9:g.107824958_107824959delinsAT NCBI36
NG_011977.1:g.260149_260150delinsAT
NG_011977.2:g.260149_260150delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4821+151_4821+152delinsAT MANE Select ENSP00000331902.7:n.4821+151_4821+152delinsAT
ENST00000361603.7:c.4803+151_4803+152delinsAT ENSP00000354505.2:n.4803+151_4803+152delinsAT
ENST00000510690.2:n.1315+151_1315+152delinsAT
ENST00000644079.1:n.1458_1459delinsAT
ENST00000328300.10:c.4821+151_4821+152delinsAT ENSP00000331902.6:n.4821+151_4821+152delinsAT
ENST00000361603.6:c.4803+151_4803+152delinsAT ENSP00000354505.2:n.4803+151_4803+152delinsAT
ENST00000504541.1:c.219+151_219+152delinsAT ENSP00000424845.1:n.219+151_219+152delinsAT
ENST00000515658.1:c.325-1225_325-1224delinsAT
NM_000495.4:c.4803+151_4803+152delinsAT NP_000486.1:n.4803+151_4803+152delinsAT
NM_033380.2:c.4821+151_4821+152delinsAT NP_203699.1:n.4821+151_4821+152delinsAT
XM_005262070.2:c.4812+151_4812+152delinsAT XP_005262127.1:n.4812+151_4812+152delinsAT
XM_006724616.2:c.4821+151_4821+152delinsAT XP_006724679.1:n.4821+151_4821+152delinsAT
XM_011530849.1:c.4497+151_4497+152delinsAT XP_011529151.1:n.4497+151_4497+152delinsAT
XM_011530851.1:c.2394+151_2394+152delinsAT XP_011529153.1:n.2394+151_2394+152delinsAT
XM_011530849.2:c.4836+151_4836+152delinsAT XP_011529151.2:n.4836+151_4836+152delinsAT
XM_017029259.2:c.4827+151_4827+152delinsAT XP_016884748.1:n.4827+151_4827+152delinsAT
XM_017029260.1:c.4818+151_4818+152delinsAT XP_016884749.1:n.4818+151_4818+152delinsAT
XM_017029263.2:c.3156+151_3156+152delinsAT XP_016884752.1:n.3156+151_3156+152delinsAT
NM_000495.5:c.4803+151_4803+152delinsAT NP_000486.1:n.4803+151_4803+152delinsAT
NM_033380.3:c.4821+151_4821+152delinsAT MANE Select NP_203699.1:n.4821+151_4821+152delinsAT