Canonical Allele Identifier: CA765638894
Gene: COL4A4 HGNC NCBI

Linked Data

dbSNP Id: rs1480634481

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227008268del , CM000664.2:g.227008268del GRCh38
NC_000002.11:g.227872984del , CM000664.1:g.227872984del GRCh37
NC_000002.10:g.227581228del NCBI36
NG_011592.1:g.161292del , LRG_231:g.161292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682098.1:c.190-29del ENSP00000508331.1:n.190-29del
ENST00000396625.5:c.4559del MANE Select ENSP00000379866.3:p.Leu1520ArgfsTer?
ENST00000396625.3:c.4559del ENSP00000379866.3:p.Leu1520ArgfsTer?
NM_000092.4:c.4559del , LRG_231t1:c.4559del NP_000083.3:p.Leu1520ArgfsTer?
XM_005246281.2:c.4559del XP_005246338.1:p.Leu1520ArgfsTer?
XM_005246282.2:c.4004del XP_005246339.1:p.Leu1335ArgfsTer?
XM_006712246.2:c.4370del XP_006712309.1:p.Leu1457ArgfsTer?
XM_006712249.2:c.4559del XP_006712312.1:p.Leu1520ArgfsTer?
XM_006712252.2:c.4216+13780del XP_006712315.1:n.4216+13780del
XM_011510557.1:c.4478del XP_011508859.1:p.Leu1493ArgfsTer?
XM_011510558.1:c.4451del XP_011508860.1:p.Leu1484ArgfsTer?
XM_011510559.1:c.4559del XP_011508861.1:p.Leu1520ArgfsTer?
XM_011510560.1:c.4559del XP_011508862.1:p.Leu1520ArgfsTer?
XM_011510561.1:c.4559del XP_011508863.1:p.Leu1520ArgfsTer?
XM_011510562.1:c.4559del XP_011508864.1:p.Leu1520ArgfsTer?
XM_011510563.1:c.4334-29del XP_011508865.1:n.4334-29del
XM_011510564.1:c.4217-29del XP_011508866.1:n.4217-29del
XM_011510565.1:c.4216+13780del XP_011508867.1:n.4216+13780del
XM_011510566.1:c.4216+13780del XP_011508868.1:n.4216+13780del
XM_011510567.1:c.4216+13780del XP_011508869.1:n.4216+13780del
XM_011510569.1:c.4216+13780del XP_011508871.1:n.4216+13780del
XM_011510570.1:c.4216+13780del XP_011508872.1:n.4216+13780del
XM_011510571.1:c.4216+13780del XP_011508873.1:n.4216+13780del
XM_011510572.1:c.2885del XP_011508874.1:p.Leu962ArgfsTer?
XR_922837.1:n.4869del
XR_922838.1:n.4869del
XR_922839.1:n.4526+13780del
XR_922840.1:n.4526+13780del
XM_005246281.3:c.4559del XP_005246338.1:p.Leu1520ArgfsTer?
XM_005246282.3:c.4004del XP_005246339.1:p.Leu1335ArgfsTer?
XM_006712246.3:c.4370del XP_006712309.1:p.Leu1457ArgfsTer?
XM_011510557.2:c.4478del XP_011508859.1:p.Leu1493ArgfsTer?
XM_011510558.2:c.4451del XP_011508860.1:p.Leu1484ArgfsTer?
XM_011510559.2:c.4559del XP_011508861.1:p.Leu1520ArgfsTer?
XM_011510560.2:c.4559del XP_011508862.1:p.Leu1520ArgfsTer?
XM_011510561.2:c.4559del XP_011508863.1:p.Leu1520ArgfsTer?
XM_011510562.2:c.4559del XP_011508864.1:p.Leu1520ArgfsTer?
XM_011510565.2:c.4216+13780del XP_011508867.1:n.4216+13780del
XM_011510566.2:c.4216+13780del XP_011508868.1:n.4216+13780del
XM_011510567.2:c.4216+13780del XP_011508869.1:n.4216+13780del
XM_011510569.2:c.4216+13780del XP_011508871.1:n.4216+13780del
XM_011510570.2:c.4216+13780del XP_011508872.1:n.4216+13780del
XM_011510572.3:c.2885del XP_011508874.1:p.Leu962ArgfsTer?
XM_017003296.1:c.4559del XP_016858785.1:p.Leu1520ArgfsTer?
XM_017003297.1:c.4442del XP_016858786.1:p.Leu1481ArgfsTer?
XM_017003298.1:c.4559del XP_016858787.1:p.Leu1520ArgfsTer?
XM_017003300.1:c.4216+13780del XP_016858789.1:n.4216+13780del
XR_001738602.1:n.4885del
XR_001738603.1:n.4885del
XR_001738604.1:n.4660-29del
XR_001738606.1:n.4542+13780del
XR_001738607.1:n.4542+13780del
XR_922837.2:n.4885del
NM_000092.5:c.4559del MANE Select NP_000083.3:p.Leu1520ArgfsTer?