Canonical Allele Identifier: CA334055385
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886406
MyVariant Identifiers: chrX:g.107925098_107925099insC (hg19) chrX:g.108681868_108681869insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681868_108681869insC , CM000685.2:g.108681868_108681869insC GRCh38
NC_000023.10:g.107925098_107925099insC , CM000685.1:g.107925098_107925099insC GRCh37
NC_000023.9:g.107811754_107811755insC NCBI36
NG_011977.1:g.246945_246946insC
NG_011977.2:g.246945_246946insC

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4196_4197insC MANE Select ENSP00000331902.7:p.Gln1399HisfsTer25
ENST00000361603.7:c.4178_4179insC ENSP00000354505.2:p.Gln1393HisfsTer25
ENST00000510690.2:n.690_691insC
ENST00000328300.10:c.4196_4197insC ENSP00000331902.6:p.Gln1399HisfsTer25
ENST00000361603.6:c.4178_4179insC ENSP00000354505.2:p.Gln1393HisfsTer25
ENST00000489230.1:n.599_600insC
NM_000495.4:c.4178_4179insC NP_000486.1:p.Gln1393HisfsTer25
NM_033380.2:c.4196_4197insC NP_203699.1:p.Gln1399HisfsTer25
XM_005262070.2:c.4187_4188insC XP_005262127.1:p.Gln1396HisfsTer25
XM_006724616.2:c.4196_4197insC XP_006724679.1:p.Gln1399HisfsTer25
XM_011530849.1:c.3872_3873insC XP_011529151.1:p.Gln1291HisfsTer25
XM_011530851.1:c.1769_1770insC XP_011529153.1:p.Gln590HisfsTer25
XM_011530849.2:c.4211_4212insC XP_011529151.2:p.Gln1404HisfsTer25
XM_017029259.2:c.4202_4203insC XP_016884748.1:p.Gln1401HisfsTer25
XM_017029260.1:c.4193_4194insC XP_016884749.1:p.Gln1398HisfsTer25
XM_017029263.2:c.2531_2532insC XP_016884752.1:p.Gln844HisfsTer25
NM_000495.5:c.4178_4179insC NP_000486.1:p.Gln1393HisfsTer25
NM_033380.3:c.4196_4197insC MANE Select NP_203699.1:p.Gln1399HisfsTer25
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