Canonical Allele Identifier: CA1332863195

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312207_227312208delinsTG , CM000664.2:g.227312207_227312208delinsTG	GRCh38
NC_000002.11:g.228176923_228176924delinsTG , CM000664.1:g.228176923_228176924delinsTG	GRCh37
NC_000002.10:g.227885167_227885168delinsTG	NCBI36
NG_011591.1:g.152643_152644delinsTG , LRG_230:g.152643_152644delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2608_2609delinsTG (COL4A3)
ENST00000682257.1:n.572_573delinsTG (COL4A3)
ENST00000682970.1:n.648_649delinsTG (COL4A3)
ENST00000683077.1:n.2289_2290delinsTG (COL4A3)
ENST00000684413.1:n.2917_2918delinsTG (COL4A3)
ENST00000684724.1:n.771_772delinsTG (COL4A3)
ENST00000396578.8:c.*337_*338delinsTG (COL4A3) MANE Select	ENSP00000379823.3:n.*337_*338delinsTG
ENST00000396578.7:c.*337_*338delinsTG (COL4A3)	ENSP00000379823.3:n.*337_*338delinsTG
NM_000091.4:c.*337_*338delinsTG , LRG_230t1:c.*337_*338delinsTG (COL4A3)	NP_000082.2:n.*337_*338delinsTG
NR_102371.1:n.48-6553_48-6552delinsCA (MFF-DT)
XM_005246276.2:c.*263_*264delinsTG (COL4A3)	XP_005246333.1:n.*263_*264delinsTG
XM_005246277.2:c.*337_*338delinsTG (COL4A3)	XP_005246334.1:n.*337_*338delinsTG
XM_011510556.1:c.*337_*338delinsTG (COL4A3)	XP_011508858.1:n.*337_*338delinsTG
XR_241280.2:n.5310_5311delinsTG (COL4A3)
XM_005246277.3:c.*337_*338delinsTG (COL4A3)	XP_005246334.1:n.*337_*338delinsTG
XM_011510556.2:c.*337_*338delinsTG (COL4A3)	XP_011508858.1:n.*337_*338delinsTG
XR_241280.3:n.5310_5311delinsTG (COL4A3)
NM_000091.5:c.*337_*338delinsTG (COL4A3) MANE Select	NP_000082.2:n.*337_*338delinsTG