Canonical Allele Identifier: CA259043
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886418
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687510dup , CM000685.2:g.108687510dup GRCh38
NC_000023.10:g.107930740dup , CM000685.1:g.107930740dup GRCh37
NC_000023.9:g.107817396dup NCBI36
NG_011977.1:g.252587dup
NG_011977.2:g.252587dup

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4344dup MANE Select ENSP00000331902.7:p.Pro1449SerfsTer?
ENST00000361603.7:c.4326dup ENSP00000354505.2:p.Pro1443SerfsTer?
ENST00000510690.2:n.838dup
ENST00000328300.10:c.4344dup ENSP00000331902.6:p.Pro1449SerfsTer?
ENST00000361603.6:c.4326dup ENSP00000354505.2:p.Pro1443SerfsTer?
ENST00000515658.1:c.140dup
NM_000495.4:c.4326dup NP_000486.1:p.Pro1443SerfsTer?
NM_033380.2:c.4344dup NP_203699.1:p.Pro1449SerfsTer?
XM_005262070.2:c.4335dup XP_005262127.1:p.Pro1446SerfsTer?
XM_006724616.2:c.4344dup XP_006724679.1:p.Pro1449SerfsTer?
XM_011530849.1:c.4020dup XP_011529151.1:p.Pro1341SerfsTer?
XM_011530851.1:c.1917dup XP_011529153.1:p.Pro640SerfsTer?
XM_011530849.2:c.4359dup XP_011529151.2:p.Pro1454SerfsTer?
XM_017029259.2:c.4350dup XP_016884748.1:p.Pro1451SerfsTer?
XM_017029260.1:c.4341dup XP_016884749.1:p.Pro1448SerfsTer?
XM_017029263.2:c.2679dup XP_016884752.1:p.Pro894SerfsTer?
NM_000495.5:c.4326dup NP_000486.1:p.Pro1443SerfsTer?
NM_033380.3:c.4344dup MANE Select NP_203699.1:p.Pro1449SerfsTer?
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