Canonical Allele Identifier: CA2580065887

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 1723965
• ClinVar RCV Id: RCV002306520

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227280974_227280975insACTGTCTCTTA , CM000664.2:g.227280974_227280975insACTGTCTCTTA	GRCh38
NC_000002.11:g.228145690_228145691insACTGTCTCTTA , CM000664.1:g.228145690_228145691insACTGTCTCTTA	GRCh37
NC_000002.10:g.227853934_227853935insACTGTCTCTTA	NCBI36
NG_011591.1:g.121410_121411insACTGTCTCTTA , LRG_230:g.121410_121411insACTGTCTCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.2456_2457insACTGTCTCTTA (COL4A3) MANE Select	ENSP00000379823.3:p.Pro820LeufsTer7
ENST00000396578.7:c.2456_2457insACTGTCTCTTA (COL4A3)	ENSP00000379823.3:p.Pro820LeufsTer7
NM_000091.4:c.2456_2457insACTGTCTCTTA , LRG_230t1:c.2456_2457insACTGTCTCTTA (COL4A3)	NP_000082.2:p.Pro820LeufsTer7
NR_102371.1:n.329+729_329+730insTAAGAGACAGT (MFF-DT)
XM_005246276.2:c.2456_2457insACTGTCTCTTA (COL4A3)	XP_005246333.1:p.Pro820LeufsTer7
XM_005246277.2:c.2351_2352insACTGTCTCTTA (COL4A3)	XP_005246334.1:p.Pro785LeufsTer7
XM_005246280.2:c.2456_2457insACTGTCTCTTA (COL4A3)	XP_005246337.1:p.Pro820LeufsTer7
XM_006712245.2:c.2456_2457insACTGTCTCTTA (COL4A3)	XP_006712308.1:p.Pro820LeufsTer7
XM_011510555.1:c.2456_2457insACTGTCTCTTA (COL4A3)	XP_011508857.1:p.Pro820LeufsTer7
XM_011510556.1:c.1217_1218insACTGTCTCTTA (COL4A3)	XP_011508858.1:p.Pro407LeufsTer7
XR_241280.2:n.2594_2595insACTGTCTCTTA (COL4A3)
XM_005246277.3:c.2351_2352insACTGTCTCTTA (COL4A3)	XP_005246334.1:p.Pro785LeufsTer7
XM_005246280.3:c.2456_2457insACTGTCTCTTA (COL4A3)	XP_005246337.1:p.Pro820LeufsTer7
XM_006712245.3:c.2456_2457insACTGTCTCTTA (COL4A3)	XP_006712308.1:p.Pro820LeufsTer7
XM_011510556.2:c.1217_1218insACTGTCTCTTA (COL4A3)	XP_011508858.1:p.Pro407LeufsTer7
XM_017003295.1:c.2456_2457insACTGTCTCTTA (COL4A3)	XP_016858784.1:p.Pro820LeufsTer7
XR_001738601.1:n.2594_2595insACTGTCTCTTA (COL4A3)
XR_241280.3:n.2594_2595insACTGTCTCTTA (COL4A3)
NM_000091.5:c.2456_2457insACTGTCTCTTA (COL4A3) MANE Select	NP_000082.2:p.Pro820LeufsTer7