Canonical Allele Identifier: CA1332863134
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227312062_227312064delinsCTG , CM000664.2:g.227312062_227312064delinsCTG GRCh38
NC_000002.11:g.228176778_228176780delinsCTG , CM000664.1:g.228176778_228176780delinsCTG GRCh37
NC_000002.10:g.227885022_227885024delinsCTG NCBI36
NG_011591.1:g.152498_152500delinsCTG , LRG_230:g.152498_152500delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.2463_2465delinsCTG (COL4A3)
ENST00000682257.1:n.427_429delinsCTG (COL4A3)
ENST00000682970.1:n.503_505delinsCTG (COL4A3)
ENST00000683077.1:n.2144_2146delinsCTG (COL4A3)
ENST00000684413.1:n.2772_2774delinsCTG (COL4A3)
ENST00000684724.1:n.626_628delinsCTG (COL4A3)
ENST00000396578.8:c.*192_*194delinsCTG (COL4A3) MANE Select ENSP00000379823.3:n.*192_*194delinsCTG
ENST00000396578.7:c.*192_*194delinsCTG (COL4A3) ENSP00000379823.3:n.*192_*194delinsCTG
NM_000091.4:c.*192_*194delinsCTG , LRG_230t1:c.*192_*194delinsCTG (COL4A3) NP_000082.2:n.*192_*194delinsCTG
NR_102371.1:n.48-6409_48-6407delinsCAG (MFF-DT)
XM_005246276.2:c.*118_*120delinsCTG (COL4A3) XP_005246333.1:n.*118_*120delinsCTG
XM_005246277.2:c.*192_*194delinsCTG (COL4A3) XP_005246334.1:n.*192_*194delinsCTG
XM_011510556.1:c.*192_*194delinsCTG (COL4A3) XP_011508858.1:n.*192_*194delinsCTG
XR_241280.2:n.5165_5167delinsCTG (COL4A3)
XM_005246277.3:c.*192_*194delinsCTG (COL4A3) XP_005246334.1:n.*192_*194delinsCTG
XM_011510556.2:c.*192_*194delinsCTG (COL4A3) XP_011508858.1:n.*192_*194delinsCTG
XR_241280.3:n.5165_5167delinsCTG (COL4A3)
NM_000091.5:c.*192_*194delinsCTG (COL4A3) MANE Select NP_000082.2:n.*192_*194delinsCTG