Canonical Allele Identifier: CA645509120
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 438655
dbSNP Id: rs1175052474

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227295297_227295299dup , CM000664.2:g.227295297_227295299dup GRCh38
NC_000002.11:g.228160013_228160015dup , CM000664.1:g.228160013_228160015dup GRCh37
NC_000002.10:g.227868257_227868259dup NCBI36
NG_011591.1:g.135733_135735dup , LRG_230:g.135733_135735dup

Transcript Alleles

HGVS Amino-acid change
ENST00000396578.8:c.3546_3548dup (COL4A3) MANE Select ENSP00000379823.3:p.Gly1183_Asn1184insGly...
ENST00000396578.7:c.3546_3548dup (COL4A3) ENSP00000379823.3:p.Gly1183_Asn1184insGly...
NM_000091.4:c.3546_3548dup , LRG_230t1:c.3546_3548dup (COL4A3) NP_000082.2:p.Gly1183_Asn1184insGly
NR_102371.1:n.243+10162_243+10164dup (MFF-DT)
XM_005246276.2:c.3546_3548dup (COL4A3) XP_005246333.1:p.Gly1183_Asn1184insGly
XM_005246277.2:c.3441_3443dup (COL4A3) XP_005246334.1:p.Gly1148_Asn1149insGly
XM_006712245.2:c.3546_3548dup (COL4A3) XP_006712308.1:p.Gly1183_Asn1184insGly
XM_011510555.1:c.3546_3548dup (COL4A3) XP_011508857.1:p.Gly1183_Asn1184insGly
XM_011510556.1:c.2307_2309dup (COL4A3) XP_011508858.1:p.Gly770_Asn771insGly
XR_241280.2:n.3684_3686dup (COL4A3)
XM_005246277.3:c.3441_3443dup (COL4A3) XP_005246334.1:p.Gly1148_Asn1149insGly
XM_006712245.3:c.3546_3548dup (COL4A3) XP_006712308.1:p.Gly1183_Asn1184insGly
XM_011510556.2:c.2307_2309dup (COL4A3) XP_011508858.1:p.Gly770_Asn771insGly
XR_001738601.1:n.3684_3686dup (COL4A3)
XR_241280.3:n.3684_3686dup (COL4A3)
NM_000091.5:c.3546_3548dup (COL4A3) MANE Select NP_000082.2:p.Gly1183_Asn1184insGly