Canonical Allele Identifier: CA258744
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886362

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108621833dup , CM000685.2:g.108621833dup GRCh38
NC_000023.10:g.107865063dup , CM000685.1:g.107865063dup GRCh37
NC_000023.9:g.107751719dup NCBI36
NG_011977.1:g.186910dup
NG_011977.2:g.186910dup

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2708dup MANE Select ENSP00000331902.7:p.Pro904SerfsTer19
ENST00000361603.7:c.2708dup ENSP00000354505.2:p.Pro904SerfsTer19
ENST00000328300.10:c.2708dup ENSP00000331902.6:p.Pro904SerfsTer19
ENST00000361603.6:c.2708dup ENSP00000354505.2:p.Pro904SerfsTer19
ENST00000483338.1:n.2164dup
NM_000495.4:c.2708dup NP_000486.1:p.Pro904SerfsTer19
NM_033380.2:c.2708dup NP_203699.1:p.Pro904SerfsTer19
XM_005262070.2:c.2708dup XP_005262127.1:p.Pro904SerfsTer19
XM_005262072.3:c.2708dup XP_005262129.1:p.Pro904SerfsTer19
XM_006724616.2:c.2708dup XP_006724679.1:p.Pro904SerfsTer19
XM_011530849.1:c.2384dup XP_011529151.1:p.Pro796SerfsTer19
XM_011530850.1:c.2708dup XP_011529152.1:p.Pro904SerfsTer19
XM_011530851.1:c.281dup XP_011529153.1:p.Pro95SerfsTer19
XM_011530849.2:c.2723dup XP_011529151.2:p.Pro909SerfsTer19
XM_017029259.2:c.2723dup XP_016884748.1:p.Pro909SerfsTer19
XM_017029260.1:c.2723dup XP_016884749.1:p.Pro909SerfsTer19
XM_017029261.1:c.2723dup XP_016884750.1:p.Pro909SerfsTer19
XM_017029262.2:c.2723dup XP_016884751.1:p.Pro909SerfsTer19
XM_017029263.2:c.1043dup XP_016884752.1:p.Pro349SerfsTer19
NM_000495.5:c.2708dup NP_000486.1:p.Pro904SerfsTer19
NM_033380.3:c.2708dup MANE Select NP_203699.1:p.Pro904SerfsTer19