Canonical Allele Identifier: CA259052
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886421
MyVariant Identifiers: chrX:g.107930905_107930906del (hg19) chrX:g.108687675_108687676del (hg38)
PubMed: PMID:10561141
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687675_108687676del , CM000685.2:g.108687675_108687676del GRCh38
NC_000023.10:g.107930905_107930906del , CM000685.1:g.107930905_107930906del GRCh37
NC_000023.9:g.107817561_107817562del NCBI36
NG_011977.1:g.252752_252753del
NG_011977.2:g.252752_252753del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4509_4510del MANE Select ENSP00000331902.7:p.Arg1503SerfsTer17
ENST00000361603.7:c.4491_4492del ENSP00000354505.2:p.Arg1497SerfsTer17
ENST00000510690.2:n.1003_1004del
ENST00000328300.10:c.4509_4510del ENSP00000331902.6:p.Arg1503SerfsTer17
ENST00000361603.6:c.4491_4492del ENSP00000354505.2:p.Arg1497SerfsTer17
ENST00000515658.1:c.305_306del
NM_000495.4:c.4491_4492del NP_000486.1:p.Arg1497SerfsTer17
NM_033380.2:c.4509_4510del NP_203699.1:p.Arg1503SerfsTer17
XM_005262070.2:c.4500_4501del XP_005262127.1:p.Arg1500SerfsTer17
XM_006724616.2:c.4509_4510del XP_006724679.1:p.Arg1503SerfsTer17
XM_011530849.1:c.4185_4186del XP_011529151.1:p.Arg1395SerfsTer17
XM_011530851.1:c.2082_2083del XP_011529153.1:p.Arg694SerfsTer17
XM_011530849.2:c.4524_4525del XP_011529151.2:p.Arg1508SerfsTer17
XM_017029259.2:c.4515_4516del XP_016884748.1:p.Arg1505SerfsTer17
XM_017029260.1:c.4506_4507del XP_016884749.1:p.Arg1502SerfsTer17
XM_017029263.2:c.2844_2845del XP_016884752.1:p.Arg948SerfsTer17
NM_000495.5:c.4491_4492del NP_000486.1:p.Arg1497SerfsTer17
NM_033380.3:c.4509_4510del MANE Select NP_203699.1:p.Arg1503SerfsTer17
Search 100 bp 5'
Search 100 bp 3'