Canonical Allele Identifier: CA2695235218
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108620355_108620357dup , CM000685.2:g.108620355_108620357dup GRCh38
NC_000023.10:g.107863585_107863587dup , CM000685.1:g.107863585_107863587dup GRCh37
NC_000023.9:g.107750241_107750243dup NCBI36
NG_011977.1:g.185432_185434dup
NG_011977.2:g.185432_185434dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2606_2608dup MANE Select ENSP00000331902.7:p.Gly869_Ala870insGly
ENST00000361603.7:c.2606_2608dup ENSP00000354505.2:p.Gly869_Ala870insGly
ENST00000328300.10:c.2606_2608dup ENSP00000331902.6:p.Gly869_Ala870insGly
ENST00000361603.6:c.2606_2608dup ENSP00000354505.2:p.Gly869_Ala870insGly
ENST00000483338.1:n.2062_2064dup
NM_000495.4:c.2606_2608dup NP_000486.1:p.Gly869_Ala870insGly
NM_033380.2:c.2606_2608dup NP_203699.1:p.Gly869_Ala870insGly
XM_005262070.2:c.2606_2608dup XP_005262127.1:p.Gly869_Ala870insGly
XM_005262072.3:c.2606_2608dup XP_005262129.1:p.Gly869_Ala870insGly
XM_006724616.2:c.2606_2608dup XP_006724679.1:p.Gly869_Ala870insGly
XM_011530849.1:c.2282_2284dup XP_011529151.1:p.Gly761_Ala762insGly
XM_011530850.1:c.2606_2608dup XP_011529152.1:p.Gly869_Ala870insGly
XM_011530851.1:c.179_181dup XP_011529153.1:p.Gly60_Ala61insGly
XM_011530849.2:c.2621_2623dup XP_011529151.2:p.Gly874_Ala875insGly
XM_017029259.2:c.2621_2623dup XP_016884748.1:p.Gly874_Ala875insGly
XM_017029260.1:c.2621_2623dup XP_016884749.1:p.Gly874_Ala875insGly
XM_017029261.1:c.2621_2623dup XP_016884750.1:p.Gly874_Ala875insGly
XM_017029262.2:c.2621_2623dup XP_016884751.1:p.Gly874_Ala875insGly
XM_017029263.2:c.941_943dup XP_016884752.1:p.Gly314_Ala315insGly
NM_000495.5:c.2606_2608dup NP_000486.1:p.Gly869_Ala870insGly
NM_033380.3:c.2606_2608dup MANE Select NP_203699.1:p.Gly869_Ala870insGly