Canonical Allele Identifier: CA258201
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24228
ClinVar RCV Id: RCV000681890
dbSNP Id: rs104886427

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108440174_108440175del , CM000685.2:g.108440174_108440175del GRCh38
NC_000023.10:g.107683404_107683405del , CM000685.1:g.107683404_107683405del GRCh37
NC_000023.9:g.107570060_107570061del NCBI36
NG_011977.1:g.5251_5252del
NG_012059.2:g.4300_4301del
NG_011977.2:g.5251_5252del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.49_50del MANE Select ENSP00000331902.7:p.Leu17GlufsTer22
ENST00000361603.7:c.49_50del ENSP00000354505.2:p.Leu17GlufsTer22
ENST00000642185.1:c.49_50del ENSP00000495101.1:p.Leu17GlufsTer?
ENST00000328300.10:c.49_50del ENSP00000331902.6:p.Leu17GlufsTer22
ENST00000361603.6:c.49_50del ENSP00000354505.2:p.Leu17GlufsTer22
ENST00000470339.1:n.233_234del
ENST00000477429.1:n.331_332del
NM_000495.4:c.49_50del NP_000486.1:p.Leu17GlufsTer22
NM_033380.2:c.49_50del NP_203699.1:p.Leu17GlufsTer22
XM_005262070.2:c.49_50del XP_005262127.1:p.Leu17GlufsTer22
XM_005262072.3:c.49_50del XP_005262129.1:p.Leu17GlufsTer22
XM_006724616.2:c.49_50del XP_006724679.1:p.Leu17GlufsTer22
XM_011530850.1:c.49_50del XP_011529152.1:p.Leu17GlufsTer22
NM_000495.5:c.49_50del NP_000486.1:p.Leu17GlufsTer22
NM_033380.3:c.49_50del MANE Select NP_203699.1:p.Leu17GlufsTer22