Canonical Allele Identifier: CA1332863146

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312088_227312089delinsCA , CM000664.2:g.227312088_227312089delinsCA	GRCh38
NC_000002.11:g.228176804_228176805delinsCA , CM000664.1:g.228176804_228176805delinsCA	GRCh37
NC_000002.10:g.227885048_227885049delinsCA	NCBI36
NG_011591.1:g.152524_152525delinsCA , LRG_230:g.152524_152525delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2489_2490delinsCA (COL4A3)
ENST00000682257.1:n.453_454delinsCA (COL4A3)
ENST00000682970.1:n.529_530delinsCA (COL4A3)
ENST00000683077.1:n.2170_2171delinsCA (COL4A3)
ENST00000684413.1:n.2798_2799delinsCA (COL4A3)
ENST00000684724.1:n.652_653delinsCA (COL4A3)
ENST00000396578.8:c.*218_*219delinsCA (COL4A3) MANE Select	ENSP00000379823.3:n.*218_*219delinsCA
ENST00000396578.7:c.*218_*219delinsCA (COL4A3)	ENSP00000379823.3:n.*218_*219delinsCA
NM_000091.4:c.*218_*219delinsCA , LRG_230t1:c.*218_*219delinsCA (COL4A3)	NP_000082.2:n.*218_*219delinsCA
NR_102371.1:n.48-6434_48-6433delinsTG (MFF-DT)
XM_005246276.2:c.*144_*145delinsCA (COL4A3)	XP_005246333.1:n.*144_*145delinsCA
XM_005246277.2:c.*218_*219delinsCA (COL4A3)	XP_005246334.1:n.*218_*219delinsCA
XM_011510556.1:c.*218_*219delinsCA (COL4A3)	XP_011508858.1:n.*218_*219delinsCA
XR_241280.2:n.5191_5192delinsCA (COL4A3)
XM_005246277.3:c.*218_*219delinsCA (COL4A3)	XP_005246334.1:n.*218_*219delinsCA
XM_011510556.2:c.*218_*219delinsCA (COL4A3)	XP_011508858.1:n.*218_*219delinsCA
XR_241280.3:n.5191_5192delinsCA (COL4A3)
NM_000091.5:c.*218_*219delinsCA (COL4A3) MANE Select	NP_000082.2:n.*218_*219delinsCA