Canonical Allele Identifier: CA258985
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886268
MyVariant Identifiers: chrX:g.107924991del (hg19) chrX:g.108681761del (hg38)
PubMed: PMID:8940267
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681761del , CM000685.2:g.108681761del GRCh38
NC_000023.10:g.107924991del , CM000685.1:g.107924991del GRCh37
NC_000023.9:g.107811647del NCBI36
NG_011977.1:g.246838del
NG_011977.2:g.246838del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4089del MANE Select ENSP00000331902.7:p.Pro1364LeufsTer13
ENST00000361603.7:c.4071del ENSP00000354505.2:p.Pro1358LeufsTer13
ENST00000510690.2:n.583del
ENST00000328300.10:c.4089del ENSP00000331902.6:p.Pro1364LeufsTer13
ENST00000361603.6:c.4071del ENSP00000354505.2:p.Pro1358LeufsTer13
ENST00000489230.1:n.492del
NM_000495.4:c.4071del NP_000486.1:p.Pro1358LeufsTer13
NM_033380.2:c.4089del NP_203699.1:p.Pro1364LeufsTer13
XM_005262070.2:c.4080del XP_005262127.1:p.Pro1361LeufsTer13
XM_006724616.2:c.4089del XP_006724679.1:p.Pro1364LeufsTer13
XM_011530849.1:c.3765del XP_011529151.1:p.Pro1256LeufsTer13
XM_011530851.1:c.1662del XP_011529153.1:p.Pro555LeufsTer13
XM_011530849.2:c.4104del XP_011529151.2:p.Pro1369LeufsTer13
XM_017029259.2:c.4095del XP_016884748.1:p.Pro1366LeufsTer13
XM_017029260.1:c.4086del XP_016884749.1:p.Pro1363LeufsTer13
XM_017029263.2:c.2424del XP_016884752.1:p.Pro809LeufsTer13
NM_000495.5:c.4071del NP_000486.1:p.Pro1358LeufsTer13
NM_033380.3:c.4089del MANE Select NP_203699.1:p.Pro1364LeufsTer13
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