Canonical Allele Identifier: CA539903380
Community Standard Title: NC_000002.12:g.227293318del
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227293318del , CM000664.2:g.227293318del GRCh38
NC_000002.11:g.228158034del , CM000664.1:g.228158034del GRCh37
NC_000002.10:g.227866278del NCBI36
NG_011591.1:g.133754del , LRG_230:g.133754del

Transcript Alleles

HGVS Amino-acid Change
NM_000091.4:c.3337+1del , LRG_230t1:c.3337+1del (COL4A3)
NM_000091.5:c.3337+1del (COL4A3)
NR_102371.1:n.244-11528del (MFF-DT)
ENST00000304990.8:c.448+1del (COL4A3)
ENST00000396578.7:c.3337+1del (COL4A3)
ENST00000396578.8:c.3337+1del (COL4A3)
XM_005246276.2:c.3337+1del (COL4A3)
XM_005246277.2:c.3232+1del (COL4A3)
XM_005246277.3:c.3232+1del (COL4A3)
XM_006712245.2:c.3337+1del (COL4A3)
XM_006712245.3:c.3337+1del (COL4A3)
XM_011510555.1:c.3337+1del (COL4A3)
XM_011510556.1:c.2098+1del (COL4A3)
XM_011510556.2:c.2098+1del (COL4A3)
XM_017003295.1:c.3337+1del (COL4A3)
XR_001738601.1:n.3475+1del (COL4A3)
XR_241280.2:n.3475+1del (COL4A3)
XR_241280.3:n.3475+1del (COL4A3)