Canonical Allele Identifier: CA2663417110
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

gnomAD v4: 2-227246537-TCAGC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227246539_227246542del , CM000664.2:g.227246539_227246542del GRCh38
NC_000002.11:g.228111255_228111258del , CM000664.1:g.228111255_228111258del GRCh37
NC_000002.10:g.227819499_227819502del NCBI36
NG_011591.1:g.86975_86978del , LRG_230:g.86975_86978del

Transcript Alleles

HGVS Amino-acid change
ENST00000396578.8:c.388-146_388-143del (COL4A3) MANE Select ENSP00000379823.3:n.388-146_388-143del
ENST00000396578.7:c.388-146_388-143del (COL4A3) ENSP00000379823.3:n.388-146_388-143del
NM_000091.4:c.388-146_388-143del , LRG_230t1:c.388-146_388-143del (COL4A3) NP_000082.2:n.388-146_388-143del
NR_102371.1:n.1593-8367_1593-8364del (MFF-DT)
XM_005246276.2:c.388-146_388-143del (COL4A3) XP_005246333.1:n.388-146_388-143del
XM_005246277.2:c.388-146_388-143del (COL4A3) XP_005246334.1:n.388-146_388-143del
XM_005246280.2:c.388-146_388-143del (COL4A3) XP_005246337.1:n.388-146_388-143del
XM_006712245.2:c.388-146_388-143del (COL4A3) XP_006712308.1:n.388-146_388-143del
XM_011510555.1:c.388-146_388-143del (COL4A3) XP_011508857.1:n.388-146_388-143del
XR_241280.2:n.526-146_526-143del (COL4A3)
XM_005246277.3:c.388-146_388-143del (COL4A3) XP_005246334.1:n.388-146_388-143del
XM_005246280.3:c.388-146_388-143del (COL4A3) XP_005246337.1:n.388-146_388-143del
XM_006712245.3:c.388-146_388-143del (COL4A3) XP_006712308.1:n.388-146_388-143del
XM_017003295.1:c.388-146_388-143del (COL4A3) XP_016858784.1:n.388-146_388-143del
XR_001738601.1:n.526-146_526-143del (COL4A3)
XR_241280.3:n.526-146_526-143del (COL4A3)
NM_000091.5:c.388-146_388-143del (COL4A3) MANE Select NP_000082.2:n.388-146_388-143del
Search 100 bp 5'
Search 100 bp 3'