Canonical Allele Identifier: CA1139667745
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 994528
ClinVar RCV Id: RCV001288042
dbSNP Id: rs2068330297

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108677563dup , CM000685.2:g.108677563dup GRCh38
NC_000023.10:g.107920793dup , CM000685.1:g.107920793dup GRCh37
NC_000023.9:g.107807449dup NCBI36
NG_011977.1:g.242640dup
NG_011977.2:g.242640dup

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3872dup MANE Select ENSP00000331902.7:p.Asn1292LysfsTer25
ENST00000361603.7:c.3854dup ENSP00000354505.2:p.Asn1286LysfsTer25
ENST00000510690.2:n.366dup
ENST00000328300.10:c.3872dup ENSP00000331902.6:p.Asn1292LysfsTer25
ENST00000361603.6:c.3854dup ENSP00000354505.2:p.Asn1286LysfsTer25
ENST00000489230.1:n.275dup
ENST00000510690.1:n.366dup
NM_000495.4:c.3854dup NP_000486.1:p.Asn1286LysfsTer25
NM_033380.2:c.3872dup NP_203699.1:p.Asn1292LysfsTer25
XM_005262070.2:c.3863dup XP_005262127.1:p.Asn1289LysfsTer25
XM_006724616.2:c.3872dup XP_006724679.1:p.Asn1292LysfsTer25
XM_011530849.1:c.3548dup XP_011529151.1:p.Asn1184LysfsTer25
XM_011530851.1:c.1445dup XP_011529153.1:p.Asn483LysfsTer25
XM_011530849.2:c.3887dup XP_011529151.2:p.Asn1297LysfsTer25
XM_017029259.2:c.3878dup XP_016884748.1:p.Asn1294LysfsTer25
XM_017029260.1:c.3869dup XP_016884749.1:p.Asn1291LysfsTer25
XM_017029261.1:c.3887dup XP_016884750.1:p.Asn1297LysfsTer26
XM_017029263.2:c.2207dup XP_016884752.1:p.Asn737LysfsTer25
NM_000495.5:c.3854dup NP_000486.1:p.Asn1286LysfsTer25
NM_033380.3:c.3872dup MANE Select NP_203699.1:p.Asn1292LysfsTer25