Canonical Allele Identifier: CA1332861845
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308777_227308779delinsCTT , CM000664.2:g.227308777_227308779delinsCTT GRCh38
NC_000002.11:g.228173493_228173495delinsCTT , CM000664.1:g.228173493_228173495delinsCTT GRCh37
NC_000002.10:g.227881737_227881739delinsCTT NCBI36
NG_011591.1:g.149213_149215delinsCTT , LRG_230:g.149213_149215delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1721-122_1721-120delinsCTT (COL4A3)
ENST00000684413.1:n.1781_1783delinsCTT (COL4A3)
ENST00000396578.8:c.4463-122_4463-120delinsCTT (COL4A3) MANE Select ENSP00000379823.3:n.4463-122_4463-120delinsCTT
ENST00000469504.2:c.434-427_434-425delinsCTT (COL4A3) ENSP00000493493.1:n.434-427_434-425delinsCTT
ENST00000643388.1:c.149-122_149-120delinsCTT (COL4A3) ENSP00000495177.1:n.149-122_149-120delinsCTT
ENST00000396578.7:c.4463-122_4463-120delinsCTT (COL4A3) ENSP00000379823.3:n.4463-122_4463-120delinsCTT
ENST00000469504.1:n.149-427_149-425delinsCTT (COL4A3)
NM_000091.4:c.4463-122_4463-120delinsCTT , LRG_230t1:c.4463-122_4463-120delinsCTT (COL4A3) NP_000082.2:n.4463-122_4463-120delinsCTT
NR_102371.1:n.48-3124_48-3122delinsAAG (MFF-DT)
XM_005246276.2:c.4463-122_4463-120delinsCTT (COL4A3) XP_005246333.1:n.4463-122_4463-120delinsCTT
XM_005246277.2:c.4358-122_4358-120delinsCTT (COL4A3) XP_005246334.1:n.4358-122_4358-120delinsCTT
XM_011510555.1:c.4463-122_4463-120delinsCTT (COL4A3) XP_011508857.1:n.4463-122_4463-120delinsCTT
XM_011510556.1:c.3224-122_3224-120delinsCTT (COL4A3) XP_011508858.1:n.3224-122_3224-120delinsCTT
XR_241280.2:n.4601-427_4601-425delinsCTT (COL4A3)
XM_005246277.3:c.4358-122_4358-120delinsCTT (COL4A3) XP_005246334.1:n.4358-122_4358-120delinsCTT
XM_011510556.2:c.3224-122_3224-120delinsCTT (COL4A3) XP_011508858.1:n.3224-122_3224-120delinsCTT
XR_241280.3:n.4601-427_4601-425delinsCTT (COL4A3)
NM_000091.5:c.4463-122_4463-120delinsCTT (COL4A3) MANE Select NP_000082.2:n.4463-122_4463-120delinsCTT