Canonical Allele Identifier: CA2450634732
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs2064377176

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108440279_108440280insC , CM000685.2:g.108440279_108440280insC GRCh38
NC_000023.10:g.107683509_107683510insC , CM000685.1:g.107683509_107683510insC GRCh37
NC_000023.9:g.107570165_107570166insC NCBI36
NG_011977.1:g.5356_5357insC
NG_012059.2:g.4195_4196insG
NG_011977.2:g.5356_5357insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.81+73_81+74insC MANE Select ENSP00000331902.7:n.81+73_81+74insC
ENST00000361603.7:c.81+73_81+74insC ENSP00000354505.2:n.81+73_81+74insC
ENST00000642185.1:c.82-62_82-61insC ENSP00000495101.1:n.82-62_82-61insC
ENST00000328300.10:c.81+73_81+74insC ENSP00000331902.6:n.81+73_81+74insC
ENST00000361603.6:c.81+73_81+74insC ENSP00000354505.2:n.81+73_81+74insC
ENST00000470339.1:n.265+73_265+74insC
ENST00000477429.1:n.363+73_363+74insC
NM_000495.4:c.81+73_81+74insC NP_000486.1:n.81+73_81+74insC
NM_033380.2:c.81+73_81+74insC NP_203699.1:n.81+73_81+74insC
XM_005262070.2:c.81+73_81+74insC XP_005262127.1:n.81+73_81+74insC
XM_005262072.3:c.81+73_81+74insC XP_005262129.1:n.81+73_81+74insC
XM_006724616.2:c.81+73_81+74insC XP_006724679.1:n.81+73_81+74insC
XM_011530850.1:c.81+73_81+74insC XP_011529152.1:n.81+73_81+74insC
NM_000495.5:c.81+73_81+74insC NP_000486.1:n.81+73_81+74insC
NM_033380.3:c.81+73_81+74insC MANE Select NP_203699.1:n.81+73_81+74insC