Canonical Allele Identifier: CA1332863111

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311985_227311992delinsTAGTACAA , CM000664.2:g.227311985_227311992delinsTAGTACAA	GRCh38
NC_000002.11:g.228176701_228176708delinsTAGTACAA , CM000664.1:g.228176701_228176708delinsTAGTACAA	GRCh37
NC_000002.10:g.227884945_227884952delinsTAGTACAA	NCBI36
NG_011591.1:g.152421_152428delinsTAGTACAA , LRG_230:g.152421_152428delinsTAGTACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2386_2393delinsTAGTACAA (COL4A3)
ENST00000682257.1:n.350_357delinsTAGTACAA (COL4A3)
ENST00000682970.1:n.426_433delinsTAGTACAA (COL4A3)
ENST00000683077.1:n.2067_2074delinsTAGTACAA (COL4A3)
ENST00000684413.1:n.2695_2702delinsTAGTACAA (COL4A3)
ENST00000684724.1:n.549_556delinsTAGTACAA (COL4A3)
ENST00000396578.8:c.*115_*122delinsTAGTACAA (COL4A3) MANE Select	ENSP00000379823.3:n.*115_*122delinsTAGTACAA
ENST00000396578.7:c.*115_*122delinsTAGTACAA (COL4A3)	ENSP00000379823.3:n.*115_*122delinsTAGTACAA
NM_000091.4:c.*115_*122delinsTAGTACAA , LRG_230t1:c.*115_*122delinsTAGTACAA (COL4A3)	NP_000082.2:n.*115_*122delinsTAGTACAA
NR_102371.1:n.48-6337_48-6330delinsTTGTACTA (MFF-DT)
XM_005246276.2:c.*41_*48delinsTAGTACAA (COL4A3)	XP_005246333.1:n.*41_*48delinsTAGTACAA
XM_005246277.2:c.*115_*122delinsTAGTACAA (COL4A3)	XP_005246334.1:n.*115_*122delinsTAGTACAA
XM_011510556.1:c.*115_*122delinsTAGTACAA (COL4A3)	XP_011508858.1:n.*115_*122delinsTAGTACAA
XR_241280.2:n.5088_5095delinsTAGTACAA (COL4A3)
XM_005246277.3:c.*115_*122delinsTAGTACAA (COL4A3)	XP_005246334.1:n.*115_*122delinsTAGTACAA
XM_011510556.2:c.*115_*122delinsTAGTACAA (COL4A3)	XP_011508858.1:n.*115_*122delinsTAGTACAA
XR_241280.3:n.5088_5095delinsTAGTACAA (COL4A3)
NM_000091.5:c.*115_*122delinsTAGTACAA (COL4A3) MANE Select	NP_000082.2:n.*115_*122delinsTAGTACAA