Canonical Allele Identifier: CA258632
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886346
MyVariant Identifiers: chrX:g.107846253_107846273del (hg19) chrX:g.108603023_108603043del (hg38)
PubMed: PMID:16941480
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108603024_108603044del , CM000685.2:g.108603024_108603044del GRCh38
NC_000023.10:g.107846254_107846274del , CM000685.1:g.107846254_107846274del GRCh37
NC_000023.9:g.107732910_107732930del NCBI36
NG_011977.1:g.168101_168121del
NG_011977.2:g.168101_168121del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2207_2227del MANE Select ENSP00000331902.7:p.Glu736_Pro742del
ENST00000361603.7:c.2207_2227del ENSP00000354505.2:p.Glu736_Pro742del
ENST00000328300.10:c.2207_2227del ENSP00000331902.6:p.Glu736_Pro742del
ENST00000361603.6:c.2207_2227del ENSP00000354505.2:p.Glu736_Pro742del
ENST00000483338.1:n.1663_1683del
NM_000495.4:c.2207_2227del NP_000486.1:p.Glu736_Pro742del
NM_033380.2:c.2207_2227del NP_203699.1:p.Glu736_Pro742del
XM_005262070.2:c.2207_2227del XP_005262127.1:p.Glu736_Pro742del
XM_005262072.3:c.2207_2227del XP_005262129.1:p.Glu736_Pro742del
XM_006724616.2:c.2207_2227del XP_006724679.1:p.Glu736_Pro742del
XM_011530849.1:c.1883_1903del XP_011529151.1:p.Glu628_Pro634del
XM_011530850.1:c.2207_2227del XP_011529152.1:p.Glu736_Pro742del
XM_011530851.1:c.-70_-50del XP_011529153.1:n.-70_-50del
XM_011530849.2:c.2222_2242del XP_011529151.2:p.Glu741_Pro747del
XM_017029259.2:c.2222_2242del XP_016884748.1:p.Glu741_Pro747del
XM_017029260.1:c.2222_2242del XP_016884749.1:p.Glu741_Pro747del
XM_017029261.1:c.2222_2242del XP_016884750.1:p.Glu741_Pro747del
XM_017029262.2:c.2222_2242del XP_016884751.1:p.Glu741_Pro747del
XM_017029263.2:c.542_562del XP_016884752.1:p.Glu181_Pro187del
NM_000495.5:c.2207_2227del NP_000486.1:p.Glu736_Pro742del
NM_033380.3:c.2207_2227del MANE Select NP_203699.1:p.Glu736_Pro742del
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