Canonical Allele Identifier: CA2525388363
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG , CM000685.2:g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG GRCh38
NC_000023.10:g.107869540_107869541insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG , CM000685.1:g.107869540_107869541insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG GRCh37
NC_000023.9:g.107756196_107756197insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG NCBI36
NG_011977.1:g.191387_191388insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG
NG_011977.2:g.191387_191388insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG MANE Select ENSP00000331902.7:p.Ile1070AlafsTer27
ENST00000361603.7:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG ENSP00000354505.2:p.Ile1070AlafsTer27
ENST00000328300.10:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG ENSP00000331902.6:p.Ile1070AlafsTer27
ENST00000361603.6:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG ENSP00000354505.2:p.Ile1070AlafsTer27
ENST00000483338.1:n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG
ENST00000505728.1:c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG
NM_000495.4:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG NP_000486.1:p.Ile1070AlafsTer27
NM_033380.2:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG NP_203699.1:p.Ile1070AlafsTer27
XM_005262070.2:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_005262127.1:p.Ile1070AlafsTer27
XM_005262072.3:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_005262129.1:p.Ile1070AlafsTer?
XM_006724616.2:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_006724679.1:p.Ile1070AlafsTer27
XM_011530849.1:c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_011529151.1:p.Ile962AlafsTer27
XM_011530850.1:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_011529152.1:p.Ile1070AlafsTer27
XM_011530851.1:c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_011529153.1:p.Ile261AlafsTer27
XM_011530849.2:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_011529151.2:p.Ile1075AlafsTer27
XM_017029259.2:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_016884748.1:p.Ile1075AlafsTer27
XM_017029260.1:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_016884749.1:p.Ile1075AlafsTer27
XM_017029261.1:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_016884750.1:p.Ile1075AlafsTer27
XM_017029262.2:c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_016884751.1:p.Ile1075AlafsTer27
XM_017029263.2:c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG XP_016884752.1:p.Ile515AlafsTer27
NM_000495.5:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG NP_000486.1:p.Ile1070AlafsTer27
NM_033380.3:c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG MANE Select NP_203699.1:p.Ile1070AlafsTer27