Canonical Allele Identifier: CA2506677802

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309212_227309213insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG , CM000664.2:g.227309212_227309213insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG	GRCh38
NC_000002.11:g.228173928_228173929insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG , CM000664.1:g.228173928_228173929insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG	GRCh37
NC_000002.10:g.227882172_227882173insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG	NCBI36
NG_011591.1:g.149648_149649insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG , LRG_230:g.149648_149649insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1907_1908insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)
ENST00000682257.1:n.44_45insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)
ENST00000683077.1:n.131_132insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)
ENST00000684413.1:n.2216_2217insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)
ENST00000684724.1:n.70_71insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)
ENST00000396578.8:c.4649_4650insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3) MANE Select	ENSP00000379823.3:p.Val1550_Cys1551insMetCysCysLeuSerPheHisTy...
ENST00000469504.2:c.442_443insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	ENSP00000493493.1:p.Phe148delinsSerCysAlaAlaPheHisSerIleThrAr...
ENST00000643388.1:c.335_336insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	ENSP00000495177.1:p.Val112_Cys113insMetCysCysLeuSerPheHisTyrL...
ENST00000396578.7:c.4649_4650insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	ENSP00000379823.3:p.Val1550_Cys1551insMetCysCysLeuSerPheHisTy...
ENST00000469504.1:n.157_158insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)
NM_000091.4:c.4649_4650insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG , LRG_230t1:c.4649_4650insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	NP_000082.2:p.Val1550_Cys1551insMetCysCysLeuSerPheHisTyrLysGl...
NR_102371.1:n.48-3558_48-3557insCTTCCCTTGTAATGGAATGAAAGGCAGCACATG (MFF-DT)
XM_005246276.2:c.4649_4650insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	XP_005246333.1:p.Val1550_Cys1551insMetCysCysLeuSerPheHisTyrLy...
XM_005246277.2:c.4544_4545insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	XP_005246334.1:p.Val1515_Cys1516insMetCysCysLeuSerPheHisTyrLy...
XM_011510555.1:c.4649_4650insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	XP_011508857.1:p.Val1550_Cys1551insMetCysCysLeuSerPheHisTyrLy...
XM_011510556.1:c.3410_3411insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	XP_011508858.1:p.Val1137_Cys1138insMetCysCysLeuSerPheHisTyrLy...
XR_241280.2:n.4609_4610insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)
XM_005246277.3:c.4544_4545insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	XP_005246334.1:p.Val1515_Cys1516insMetCysCysLeuSerPheHisTyrLy...
XM_011510556.2:c.3410_3411insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)	XP_011508858.1:p.Val1137_Cys1138insMetCysCysLeuSerPheHisTyrLy...
XR_241280.3:n.4609_4610insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3)
NM_000091.5:c.4649_4650insCATGTGCTGCCTTTCATTCCATTACAAGGGAAG (COL4A3) MANE Select	NP_000082.2:p.Val1550_Cys1551insMetCysCysLeuSerPheHisTyrLysGl...