Canonical Allele Identifier: CA2544629710
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696272_108696273del , CM000685.2:g.108696272_108696273del GRCh38
NC_000023.10:g.107939502_107939503del , CM000685.1:g.107939502_107939503del GRCh37
NC_000023.9:g.107826158_107826159del NCBI36
NG_011977.1:g.261349_261350del
NG_011977.2:g.261349_261350del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4995-25_4995-24del MANE Select ENSP00000331902.7:n.4995-25_4995-24del
ENST00000361603.7:c.4977-25_4977-24del ENSP00000354505.2:n.4977-25_4977-24del
ENST00000510690.2:n.1489-25_1489-24del
ENST00000644079.1:n.2658_2659del
ENST00000328300.10:c.4995-25_4995-24del ENSP00000331902.6:n.4995-25_4995-24del
ENST00000361603.6:c.4977-25_4977-24del ENSP00000354505.2:n.4977-25_4977-24del
ENST00000504541.1:c.220-25_220-24del ENSP00000424845.1:n.220-25_220-24del
ENST00000515658.1:c.325-25_325-24del
NM_000495.4:c.4977-25_4977-24del NP_000486.1:n.4977-25_4977-24del
NM_033380.2:c.4995-25_4995-24del NP_203699.1:n.4995-25_4995-24del
XM_005262070.2:c.4986-25_4986-24del XP_005262127.1:n.4986-25_4986-24del
XM_006724616.2:c.4995-25_4995-24del XP_006724679.1:n.4995-25_4995-24del
XM_011530849.1:c.4671-25_4671-24del XP_011529151.1:n.4671-25_4671-24del
XM_011530851.1:c.2568-25_2568-24del XP_011529153.1:n.2568-25_2568-24del
XM_011530849.2:c.5010-25_5010-24del XP_011529151.2:n.5010-25_5010-24del
XM_017029259.2:c.5001-25_5001-24del XP_016884748.1:n.5001-25_5001-24del
XM_017029260.1:c.4992-25_4992-24del XP_016884749.1:n.4992-25_4992-24del
XM_017029263.2:c.3330-25_3330-24del XP_016884752.1:n.3330-25_3330-24del
NM_000495.5:c.4977-25_4977-24del NP_000486.1:n.4977-25_4977-24del
NM_033380.3:c.4995-25_4995-24del MANE Select NP_203699.1:n.4995-25_4995-24del