Canonical Allele Identifier: CA334046344
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886353

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108614926_108614943del , CM000685.2:g.108614926_108614943del GRCh38
NC_000023.10:g.107858156_107858173del , CM000685.1:g.107858156_107858173del GRCh37
NC_000023.9:g.107744812_107744829del NCBI36
NG_011977.1:g.180003_180020del
NG_011977.2:g.180003_180020del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2411_2428del MANE Select ENSP00000331902.7:p.Asn804_Pro809del
ENST00000361603.7:c.2411_2428del ENSP00000354505.2:p.Asn804_Pro809del
ENST00000328300.10:c.2411_2428del ENSP00000331902.6:p.Asn804_Pro809del
ENST00000361603.6:c.2411_2428del ENSP00000354505.2:p.Asn804_Pro809del
ENST00000483338.1:n.1867_1884del
NM_000495.4:c.2411_2428del NP_000486.1:p.Asn804_Pro809del
NM_033380.2:c.2411_2428del NP_203699.1:p.Asn804_Pro809del
XM_005262070.2:c.2411_2428del XP_005262127.1:p.Asn804_Pro809del
XM_005262072.3:c.2411_2428del XP_005262129.1:p.Asn804_Pro809del
XM_006724616.2:c.2411_2428del XP_006724679.1:p.Asn804_Pro809del
XM_011530849.1:c.2087_2104del XP_011529151.1:p.Asn696_Pro701del
XM_011530850.1:c.2411_2428del XP_011529152.1:p.Asn804_Pro809del
XM_011530851.1:c.-17_1del XP_011529153.1:n.-17_1del
XM_011530849.2:c.2426_2443del XP_011529151.2:p.Asn809_Pro814del
XM_017029259.2:c.2426_2443del XP_016884748.1:p.Asn809_Pro814del
XM_017029260.1:c.2426_2443del XP_016884749.1:p.Asn809_Pro814del
XM_017029261.1:c.2426_2443del XP_016884750.1:p.Asn809_Pro814del
XM_017029262.2:c.2426_2443del XP_016884751.1:p.Asn809_Pro814del
XM_017029263.2:c.746_763del XP_016884752.1:p.Asn249_Pro254del
NM_000495.5:c.2411_2428del NP_000486.1:p.Asn804_Pro809del
NM_033380.3:c.2411_2428del MANE Select NP_203699.1:p.Asn804_Pro809del