Canonical Allele Identifier: CA1332863152

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312113_227312122delinsTCACCAAAAA , CM000664.2:g.227312113_227312122delinsTCACCAAAAA	GRCh38
NC_000002.11:g.228176829_228176838delinsTCACCAAAAA , CM000664.1:g.228176829_228176838delinsTCACCAAAAA	GRCh37
NC_000002.10:g.227885073_227885082delinsTCACCAAAAA	NCBI36
NG_011591.1:g.152549_152558delinsTCACCAAAAA , LRG_230:g.152549_152558delinsTCACCAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2514_2523delinsTCACCAAAAA (COL4A3)
ENST00000682257.1:n.478_487delinsTCACCAAAAA (COL4A3)
ENST00000682970.1:n.554_563delinsTCACCAAAAA (COL4A3)
ENST00000683077.1:n.2195_2204delinsTCACCAAAAA (COL4A3)
ENST00000684413.1:n.2823_2832delinsTCACCAAAAA (COL4A3)
ENST00000684724.1:n.677_686delinsTCACCAAAAA (COL4A3)
ENST00000396578.8:c.*243_*252delinsTCACCAAAAA (COL4A3) MANE Select	ENSP00000379823.3:n.*243_*252delinsTCACCAAAAA
ENST00000396578.7:c.*243_*252delinsTCACCAAAAA (COL4A3)	ENSP00000379823.3:n.*243_*252delinsTCACCAAAAA
NM_000091.4:c.*243_*252delinsTCACCAAAAA , LRG_230t1:c.*243_*252delinsTCACCAAAAA (COL4A3)	NP_000082.2:n.*243_*252delinsTCACCAAAAA
NR_102371.1:n.48-6467_48-6458delinsTTTTTGGTGA (MFF-DT)
XM_005246276.2:c.*169_*178delinsTCACCAAAAA (COL4A3)	XP_005246333.1:n.*169_*178delinsTCACCAAAAA
XM_005246277.2:c.*243_*252delinsTCACCAAAAA (COL4A3)	XP_005246334.1:n.*243_*252delinsTCACCAAAAA
XM_011510556.1:c.*243_*252delinsTCACCAAAAA (COL4A3)	XP_011508858.1:n.*243_*252delinsTCACCAAAAA
XR_241280.2:n.5216_5225delinsTCACCAAAAA (COL4A3)
XM_005246277.3:c.*243_*252delinsTCACCAAAAA (COL4A3)	XP_005246334.1:n.*243_*252delinsTCACCAAAAA
XM_011510556.2:c.*243_*252delinsTCACCAAAAA (COL4A3)	XP_011508858.1:n.*243_*252delinsTCACCAAAAA
XR_241280.3:n.5216_5225delinsTCACCAAAAA (COL4A3)
NM_000091.5:c.*243_*252delinsTCACCAAAAA (COL4A3) MANE Select	NP_000082.2:n.*243_*252delinsTCACCAAAAA