Canonical Allele Identifier: CA2754515292

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311965_227311966insCACCCAACAC , CM000664.2:g.227311965_227311966insCACCCAACAC	GRCh38
NC_000002.11:g.228176681_228176682insCACCCAACAC , CM000664.1:g.228176681_228176682insCACCCAACAC	GRCh37
NC_000002.10:g.227884925_227884926insCACCCAACAC	NCBI36
NG_011591.1:g.152401_152402insCACCCAACAC , LRG_230:g.152401_152402insCACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2366_2367insCACCCAACAC (COL4A3)
ENST00000682257.1:n.330_331insCACCCAACAC (COL4A3)
ENST00000682970.1:n.406_407insCACCCAACAC (COL4A3)
ENST00000683077.1:n.2047_2048insCACCCAACAC (COL4A3)
ENST00000684413.1:n.2675_2676insCACCCAACAC (COL4A3)
ENST00000684724.1:n.529_530insCACCCAACAC (COL4A3)
ENST00000396578.8:c.*95_*96insCACCCAACAC (COL4A3) MANE Select	ENSP00000379823.3:n.*95_*96insCACCCAACAC
ENST00000396578.7:c.*95_*96insCACCCAACAC (COL4A3)	ENSP00000379823.3:n.*95_*96insCACCCAACAC
NM_000091.4:c.*95_*96insCACCCAACAC , LRG_230t1:c.*95_*96insCACCCAACAC (COL4A3)	NP_000082.2:n.*95_*96insCACCCAACAC
NR_102371.1:n.48-6311_48-6310insGTGTTGGGTG (MFF-DT)
XM_005246276.2:c.*21_*22insCACCCAACAC (COL4A3)	XP_005246333.1:n.*21_*22insCACCCAACAC
XM_005246277.2:c.*95_*96insCACCCAACAC (COL4A3)	XP_005246334.1:n.*95_*96insCACCCAACAC
XM_011510556.1:c.*95_*96insCACCCAACAC (COL4A3)	XP_011508858.1:n.*95_*96insCACCCAACAC
XR_241280.2:n.5068_5069insCACCCAACAC (COL4A3)
XM_005246277.3:c.*95_*96insCACCCAACAC (COL4A3)	XP_005246334.1:n.*95_*96insCACCCAACAC
XM_011510556.2:c.*95_*96insCACCCAACAC (COL4A3)	XP_011508858.1:n.*95_*96insCACCCAACAC
XR_241280.3:n.5068_5069insCACCCAACAC (COL4A3)
NM_000091.5:c.*95_*96insCACCCAACAC (COL4A3) MANE Select	NP_000082.2:n.*95_*96insCACCCAACAC