Canonical Allele Identifier: CA16617488
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 422920
ClinVar RCV Id: RCV000485204 RCV002506176
dbSNP Id: rs1064796094
gnomAD v4: 2-227290085-CCA-C
MyVariant Identifiers: chr2:g.228154802_228154803del (hg19) chr2:g.227290086_227290087del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227290086_227290087del , CM000664.2:g.227290086_227290087del GRCh38
NC_000002.11:g.228154802_228154803del , CM000664.1:g.228154802_228154803del GRCh37
NC_000002.10:g.227863046_227863047del NCBI36
NG_011591.1:g.130522_130523del , LRG_230:g.130522_130523del

Transcript Alleles

HGVS Amino-acid change
ENST00000396578.8:c.3068_3069del (COL4A3) MANE Select ENSP00000379823.3:p.Pro1023ArgfsTer3
ENST00000304990.8:c.179_180del (COL4A3) ENSP00000302781.8:p.Pro60ArgfsTer3
ENST00000396578.7:c.3068_3069del (COL4A3) ENSP00000379823.3:p.Pro1023ArgfsTer3
ENST00000487633.1:n.229_230del (COL4A3)
NM_000091.4:c.3068_3069del , LRG_230t1:c.3068_3069del (COL4A3) NP_000082.2:p.Pro1023ArgfsTer3
NR_102371.1:n.244-8298_244-8297del (MFF-DT)
XM_005246276.2:c.3068_3069del (COL4A3) XP_005246333.1:p.Pro1023ArgfsTer3
XM_005246277.2:c.2963_2964del (COL4A3) XP_005246334.1:p.Pro988ArgfsTer3
XM_005246280.2:c.3068_3069del (COL4A3) XP_005246337.1:p.Pro1023ArgfsTer3
XM_006712245.2:c.3068_3069del (COL4A3) XP_006712308.1:p.Pro1023ArgfsTer3
XM_011510555.1:c.3068_3069del (COL4A3) XP_011508857.1:p.Pro1023ArgfsTer3
XM_011510556.1:c.1829_1830del (COL4A3) XP_011508858.1:p.Pro610ArgfsTer3
XR_241280.2:n.3206_3207del (COL4A3)
XM_005246277.3:c.2963_2964del (COL4A3) XP_005246334.1:p.Pro988ArgfsTer3
XM_005246280.3:c.3068_3069del (COL4A3) XP_005246337.1:p.Pro1023ArgfsTer3
XM_006712245.3:c.3068_3069del (COL4A3) XP_006712308.1:p.Pro1023ArgfsTer3
XM_011510556.2:c.1829_1830del (COL4A3) XP_011508858.1:p.Pro610ArgfsTer3
XM_017003295.1:c.3068_3069del (COL4A3) XP_016858784.1:p.Pro1023ArgfsTer3
XR_001738601.1:n.3206_3207del (COL4A3)
XR_241280.3:n.3206_3207del (COL4A3)
NM_000091.5:c.3068_3069del (COL4A3) MANE Select NP_000082.2:p.Pro1023ArgfsTer3
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