Canonical Allele Identifier: CA2450722125
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696460_108696462delinsCAA , CM000685.2:g.108696460_108696462delinsCAA GRCh38
NC_000023.10:g.107939690_107939692delinsCAA , CM000685.1:g.107939690_107939692delinsCAA GRCh37
NC_000023.9:g.107826346_107826348delinsCAA NCBI36
NG_011977.1:g.261537_261539delinsCAA
NG_011977.2:g.261537_261539delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.*82_*84delinsCAA MANE Select ENSP00000331902.7:n.*82_*84delinsCAA
ENST00000361603.7:c.*82_*84delinsCAA ENSP00000354505.2:n.*82_*84delinsCAA
ENST00000644079.1:n.2846_2848delinsCAA
ENST00000328300.10:c.*82_*84delinsCAA ENSP00000331902.6:n.*82_*84delinsCAA
ENST00000361603.6:c.*82_*84delinsCAA ENSP00000354505.2:n.*82_*84delinsCAA
ENST00000504541.1:c.383_385delinsCAA ENSP00000424845.1:n.383_385delinsCAA
ENST00000515658.1:c.488_490delinsCAA
NM_000495.4:c.*82_*84delinsCAA NP_000486.1:n.*82_*84delinsCAA
NM_033380.2:c.*82_*84delinsCAA NP_203699.1:n.*82_*84delinsCAA
XM_005262070.2:c.*82_*84delinsCAA XP_005262127.1:n.*82_*84delinsCAA
XM_006724616.2:c.*82_*84delinsCAA XP_006724679.1:n.*82_*84delinsCAA
XM_011530849.1:c.*82_*84delinsCAA XP_011529151.1:n.*82_*84delinsCAA
XM_011530851.1:c.*82_*84delinsCAA XP_011529153.1:n.*82_*84delinsCAA
XM_011530849.2:c.*82_*84delinsCAA XP_011529151.2:n.*82_*84delinsCAA
XM_017029259.2:c.*82_*84delinsCAA XP_016884748.1:n.*82_*84delinsCAA
XM_017029260.1:c.*82_*84delinsCAA XP_016884749.1:n.*82_*84delinsCAA
XM_017029263.2:c.*82_*84delinsCAA XP_016884752.1:n.*82_*84delinsCAA
NM_000495.5:c.*82_*84delinsCAA NP_000486.1:n.*82_*84delinsCAA
NM_033380.3:c.*82_*84delinsCAA MANE Select NP_203699.1:n.*82_*84delinsCAA