Canonical Allele Identifier: CA259046
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886420
MyVariant Identifiers: chrX:g.107930850_107930851del (hg19) chrX:g.108687620_108687621del (hg38)
PubMed: PMID:11462238
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687620_108687621del , CM000685.2:g.108687620_108687621del GRCh38
NC_000023.10:g.107930850_107930851del , CM000685.1:g.107930850_107930851del GRCh37
NC_000023.9:g.107817506_107817507del NCBI36
NG_011977.1:g.252697_252698del
NG_011977.2:g.252697_252698del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4454_4455del MANE Select ENSP00000331902.7:p.Gly1485AspfsTer6
ENST00000361603.7:c.4436_4437del ENSP00000354505.2:p.Gly1479AspfsTer6
ENST00000510690.2:n.948_949del
ENST00000328300.10:c.4454_4455del ENSP00000331902.6:p.Gly1485AspfsTer6
ENST00000361603.6:c.4436_4437del ENSP00000354505.2:p.Gly1479AspfsTer6
ENST00000515658.1:c.250_251del
NM_000495.4:c.4436_4437del NP_000486.1:p.Gly1479AspfsTer6
NM_033380.2:c.4454_4455del NP_203699.1:p.Gly1485AspfsTer6
XM_005262070.2:c.4445_4446del XP_005262127.1:p.Gly1482AspfsTer6
XM_006724616.2:c.4454_4455del XP_006724679.1:p.Gly1485AspfsTer6
XM_011530849.1:c.4130_4131del XP_011529151.1:p.Gly1377AspfsTer6
XM_011530851.1:c.2027_2028del XP_011529153.1:p.Gly676AspfsTer6
XM_011530849.2:c.4469_4470del XP_011529151.2:p.Gly1490AspfsTer6
XM_017029259.2:c.4460_4461del XP_016884748.1:p.Gly1487AspfsTer6
XM_017029260.1:c.4451_4452del XP_016884749.1:p.Gly1484AspfsTer6
XM_017029263.2:c.2789_2790del XP_016884752.1:p.Gly930AspfsTer6
NM_000495.5:c.4436_4437del NP_000486.1:p.Gly1479AspfsTer6
NM_033380.3:c.4454_4455del MANE Select NP_203699.1:p.Gly1485AspfsTer6
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