Canonical Allele Identifier: CA2580065919

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 2113196
• ClinVar RCV Id: RCV003027194

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309213_227309216del , CM000664.2:g.227309213_227309216del	GRCh38
NC_000002.11:g.228173929_228173932del , CM000664.1:g.228173929_228173932del	GRCh37
NC_000002.10:g.227882173_227882176del	NCBI36
NG_011591.1:g.149649_149652del , LRG_230:g.149649_149652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1908_1911del (COL4A3)
ENST00000682257.1:n.45_48del (COL4A3)
ENST00000683077.1:n.132_135del (COL4A3)
ENST00000684413.1:n.2217_2220del (COL4A3)
ENST00000684724.1:n.71_74del (COL4A3)
ENST00000396578.8:c.4650_4653del (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1551LysfsTer7
ENST00000469504.2:c.443_446del (COL4A3)	ENSP00000493493.1:p.Phe148Ter
ENST00000643388.1:c.336_339del (COL4A3)	ENSP00000495177.1:p.Cys113LysfsTer7
ENST00000396578.7:c.4650_4653del (COL4A3)	ENSP00000379823.3:p.Cys1551LysfsTer7
ENST00000469504.1:n.158_161del (COL4A3)
NM_000091.4:c.4650_4653del , LRG_230t1:c.4650_4653del (COL4A3)	NP_000082.2:p.Cys1551LysfsTer7
NR_102371.1:n.48-3558_48-3555del (MFF-DT)
XM_005246276.2:c.4650_4653del (COL4A3)	XP_005246333.1:p.Cys1551LysfsTer7
XM_005246277.2:c.4545_4548del (COL4A3)	XP_005246334.1:p.Cys1516LysfsTer7
XM_011510555.1:c.4650_4653del (COL4A3)	XP_011508857.1:p.Cys1551LysfsTer7
XM_011510556.1:c.3411_3414del (COL4A3)	XP_011508858.1:p.Cys1138LysfsTer7
XR_241280.2:n.4610_4613del (COL4A3)
XM_005246277.3:c.4545_4548del (COL4A3)	XP_005246334.1:p.Cys1516LysfsTer7
XM_011510556.2:c.3411_3414del (COL4A3)	XP_011508858.1:p.Cys1138LysfsTer7
XR_241280.3:n.4610_4613del (COL4A3)
NM_000091.5:c.4650_4653del (COL4A3) MANE Select	NP_000082.2:p.Cys1551LysfsTer7