Canonical Allele Identifier: CA1332863188
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227312191_227312192delinsGA , CM000664.2:g.227312191_227312192delinsGA GRCh38
NC_000002.11:g.228176907_228176908delinsGA , CM000664.1:g.228176907_228176908delinsGA GRCh37
NC_000002.10:g.227885151_227885152delinsGA NCBI36
NG_011591.1:g.152627_152628delinsGA , LRG_230:g.152627_152628delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.2592_2593delinsGA (COL4A3)
ENST00000682257.1:n.556_557delinsGA (COL4A3)
ENST00000682970.1:n.632_633delinsGA (COL4A3)
ENST00000683077.1:n.2273_2274delinsGA (COL4A3)
ENST00000684413.1:n.2901_2902delinsGA (COL4A3)
ENST00000684724.1:n.755_756delinsGA (COL4A3)
ENST00000396578.8:c.*321_*322delinsGA (COL4A3) MANE Select ENSP00000379823.3:n.*321_*322delinsGA
ENST00000396578.7:c.*321_*322delinsGA (COL4A3) ENSP00000379823.3:n.*321_*322delinsGA
NM_000091.4:c.*321_*322delinsGA , LRG_230t1:c.*321_*322delinsGA (COL4A3) NP_000082.2:n.*321_*322delinsGA
NR_102371.1:n.48-6537_48-6536delinsTC (MFF-DT)
XM_005246276.2:c.*247_*248delinsGA (COL4A3) XP_005246333.1:n.*247_*248delinsGA
XM_005246277.2:c.*321_*322delinsGA (COL4A3) XP_005246334.1:n.*321_*322delinsGA
XM_011510556.1:c.*321_*322delinsGA (COL4A3) XP_011508858.1:n.*321_*322delinsGA
XR_241280.2:n.5294_5295delinsGA (COL4A3)
XM_005246277.3:c.*321_*322delinsGA (COL4A3) XP_005246334.1:n.*321_*322delinsGA
XM_011510556.2:c.*321_*322delinsGA (COL4A3) XP_011508858.1:n.*321_*322delinsGA
XR_241280.3:n.5294_5295delinsGA (COL4A3)
NM_000091.5:c.*321_*322delinsGA (COL4A3) MANE Select NP_000082.2:n.*321_*322delinsGA