Canonical Allele Identifier: CA258226
Gene: COL4A5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108568788_108568796del , CM000685.2:g.108568788_108568796del GRCh38
NC_000023.10:g.107812018_107812026del , CM000685.1:g.107812018_107812026del GRCh37
NC_000023.9:g.107698674_107698682del NCBI36
NG_011977.1:g.133865_133873del
NG_011977.2:g.133865_133873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.351_359del MANE Select ENSP00000331902.7:p.Pro118_Gly120del
ENST00000361603.7:c.351_359del ENSP00000354505.2:p.Pro118_Gly120del
ENST00000328300.10:c.351_359del ENSP00000331902.6:p.Pro118_Gly120del
ENST00000361603.6:c.351_359del ENSP00000354505.2:p.Pro118_Gly120del
ENST00000470339.1:n.535_543del
NM_000495.4:c.351_359del NP_000486.1:p.Pro118_Gly120del
NM_033380.2:c.351_359del NP_203699.1:p.Pro118_Gly120del
XM_005262070.2:c.351_359del XP_005262127.1:p.Pro118_Gly120del
XM_005262072.3:c.351_359del XP_005262129.1:p.Pro118_Gly120del
XM_006724616.2:c.351_359del XP_006724679.1:p.Pro118_Gly120del
XM_011530849.1:c.27_35del XP_011529151.1:p.Pro10_Gly12del
XM_011530850.1:c.351_359del XP_011529152.1:p.Pro118_Gly120del
XM_011530849.2:c.366_374del XP_011529151.2:p.Pro123_Gly125del
XM_017029259.2:c.366_374del XP_016884748.1:p.Pro123_Gly125del
XM_017029260.1:c.366_374del XP_016884749.1:p.Pro123_Gly125del
XM_017029261.1:c.366_374del XP_016884750.1:p.Pro123_Gly125del
XM_017029262.2:c.366_374del XP_016884751.1:p.Pro123_Gly125del
NM_000495.5:c.351_359del NP_000486.1:p.Pro118_Gly120del
NM_033380.3:c.351_359del MANE Select NP_203699.1:p.Pro118_Gly120del
Search 100 bp 5'
Search 100 bp 3'