Canonical Allele Identifier: CA2754514468
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227280810_227280811insAAAAAAAAAAAA , CM000664.2:g.227280810_227280811insAAAAAAAAAAAA GRCh38
NC_000002.11:g.228145526_228145527insAAAAAAAAAAAA , CM000664.1:g.228145526_228145527insAAAAAAAAAAAA GRCh37
NC_000002.10:g.227853770_227853771insAAAAAAAAAAAA NCBI36
NG_011591.1:g.121246_121247insAAAAAAAAAAAA , LRG_230:g.121246_121247insAAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) MANE Select ENSP00000379823.3:n.2375-83_2375-82insAAAAAAAAAAAA
ENST00000396578.7:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) ENSP00000379823.3:n.2375-83_2375-82insAAAAAAAAAAAA
NM_000091.4:c.2375-83_2375-82insAAAAAAAAAAAA , LRG_230t1:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) NP_000082.2:n.2375-83_2375-82insAAAAAAAAAAAA
NR_102371.1:n.329+900_329+901insTTTTTTTTTTTT (MFF-DT)
XM_005246276.2:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) XP_005246333.1:n.2375-83_2375-82insAAAAAAAAAAAA
XM_005246277.2:c.2270-83_2270-82insAAAAAAAAAAAA (COL4A3) XP_005246334.1:n.2270-83_2270-82insAAAAAAAAAAAA
XM_005246280.2:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) XP_005246337.1:n.2375-83_2375-82insAAAAAAAAAAAA
XM_006712245.2:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) XP_006712308.1:n.2375-83_2375-82insAAAAAAAAAAAA
XM_011510555.1:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) XP_011508857.1:n.2375-83_2375-82insAAAAAAAAAAAA
XM_011510556.1:c.1136-83_1136-82insAAAAAAAAAAAA (COL4A3) XP_011508858.1:n.1136-83_1136-82insAAAAAAAAAAAA
XR_241280.2:n.2513-83_2513-82insAAAAAAAAAAAA (COL4A3)
XM_005246277.3:c.2270-83_2270-82insAAAAAAAAAAAA (COL4A3) XP_005246334.1:n.2270-83_2270-82insAAAAAAAAAAAA
XM_005246280.3:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) XP_005246337.1:n.2375-83_2375-82insAAAAAAAAAAAA
XM_006712245.3:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) XP_006712308.1:n.2375-83_2375-82insAAAAAAAAAAAA
XM_011510556.2:c.1136-83_1136-82insAAAAAAAAAAAA (COL4A3) XP_011508858.1:n.1136-83_1136-82insAAAAAAAAAAAA
XM_017003295.1:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) XP_016858784.1:n.2375-83_2375-82insAAAAAAAAAAAA
XR_001738601.1:n.2513-83_2513-82insAAAAAAAAAAAA (COL4A3)
XR_241280.3:n.2513-83_2513-82insAAAAAAAAAAAA (COL4A3)
NM_000091.5:c.2375-83_2375-82insAAAAAAAAAAAA (COL4A3) MANE Select NP_000082.2:n.2375-83_2375-82insAAAAAAAAAAAA