Canonical Allele Identifier: CA258771
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886369

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108622733_108622735del , CM000685.2:g.108622733_108622735del GRCh38
NC_000023.10:g.107865963_107865965del , CM000685.1:g.107865963_107865965del GRCh37
NC_000023.9:g.107752619_107752621del NCBI36
NG_011977.1:g.187810_187812del
NG_011977.2:g.187810_187812del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2825_2827del MANE Select ENSP00000331902.7:p.Ser942del
ENST00000361603.7:c.2825_2827del ENSP00000354505.2:p.Ser942del
ENST00000328300.10:c.2825_2827del ENSP00000331902.6:p.Ser942del
ENST00000361603.6:c.2825_2827del ENSP00000354505.2:p.Ser942del
ENST00000483338.1:n.2281_2283del
ENST00000505728.1:c.58_60del
NM_000495.4:c.2825_2827del NP_000486.1:p.Ser942del
NM_033380.2:c.2825_2827del NP_203699.1:p.Ser942del
XM_005262070.2:c.2825_2827del XP_005262127.1:p.Ser942del
XM_005262072.3:c.2825_2827del XP_005262129.1:p.Ser942del
XM_006724616.2:c.2825_2827del XP_006724679.1:p.Ser942del
XM_011530849.1:c.2501_2503del XP_011529151.1:p.Ser834del
XM_011530850.1:c.2825_2827del XP_011529152.1:p.Ser942del
XM_011530851.1:c.398_400del XP_011529153.1:p.Ser133del
XM_011530849.2:c.2840_2842del XP_011529151.2:p.Ser947del
XM_017029259.2:c.2840_2842del XP_016884748.1:p.Ser947del
XM_017029260.1:c.2840_2842del XP_016884749.1:p.Ser947del
XM_017029261.1:c.2840_2842del XP_016884750.1:p.Ser947del
XM_017029262.2:c.2840_2842del XP_016884751.1:p.Ser947del
XM_017029263.2:c.1160_1162del XP_016884752.1:p.Ser387del
NM_000495.5:c.2825_2827del NP_000486.1:p.Ser942del
NM_033380.3:c.2825_2827del MANE Select NP_203699.1:p.Ser942del