Canonical Allele Identifier: CA258973
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886265
MyVariant Identifiers: chrX:g.107923976del (hg19) chrX:g.108680746del (hg38)
PubMed: PMID:8651296
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680746del , CM000685.2:g.108680746del GRCh38
NC_000023.10:g.107923976del , CM000685.1:g.107923976del GRCh37
NC_000023.9:g.107810632del NCBI36
NG_011977.1:g.245823del
NG_011977.2:g.245823del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4010del MANE Select ENSP00000331902.7:p.Phe1337SerfsTer4
ENST00000361603.7:c.3992del ENSP00000354505.2:p.Phe1331SerfsTer4
ENST00000510690.2:n.504del
ENST00000328300.10:c.4010del ENSP00000331902.6:p.Phe1337SerfsTer4
ENST00000361603.6:c.3992del ENSP00000354505.2:p.Phe1331SerfsTer4
ENST00000489230.1:n.413del
NM_000495.4:c.3992del NP_000486.1:p.Phe1331SerfsTer4
NM_033380.2:c.4010del NP_203699.1:p.Phe1337SerfsTer4
XM_005262070.2:c.4001del XP_005262127.1:p.Phe1334SerfsTer4
XM_006724616.2:c.4010del XP_006724679.1:p.Phe1337SerfsTer4
XM_011530849.1:c.3686del XP_011529151.1:p.Phe1229SerfsTer4
XM_011530851.1:c.1583del XP_011529153.1:p.Phe528SerfsTer4
XM_011530849.2:c.4025del XP_011529151.2:p.Phe1342SerfsTer4
XM_017029259.2:c.4016del XP_016884748.1:p.Phe1339SerfsTer4
XM_017029260.1:c.4007del XP_016884749.1:p.Phe1336SerfsTer4
XM_017029263.2:c.2345del XP_016884752.1:p.Phe782SerfsTer4
NM_000495.5:c.3992del NP_000486.1:p.Phe1331SerfsTer4
NM_033380.3:c.4010del MANE Select NP_203699.1:p.Phe1337SerfsTer4
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