Canonical Allele Identifier: CA10654913
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

dbSNP Id: rs1057516204
gnomAD v4: 2-227293218-GGAAA-G
MyVariant Identifiers: chr2:g.228157940_228157943del (hg19) chr2:g.227293224_227293227del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227293224_227293227del , CM000664.2:g.227293224_227293227del GRCh38
NC_000002.11:g.228157940_228157943del , CM000664.1:g.228157940_228157943del GRCh37
NC_000002.10:g.227866184_227866187del NCBI36
NG_011591.1:g.133660_133663del , LRG_230:g.133660_133663del

Transcript Alleles

HGVS Amino-acid change
ENST00000396578.8:c.3244_3247del (COL4A3) MANE Select ENSP00000379823.3:p.Lys1082GlufsTer?
ENST00000304990.8:c.355_358del (COL4A3) ENSP00000302781.8:p.Lys119GlufsTer?
ENST00000396578.7:c.3244_3247del (COL4A3) ENSP00000379823.3:p.Lys1082GlufsTer?
NM_000091.4:c.3244_3247del , LRG_230t1:c.3244_3247del (COL4A3) NP_000082.2:p.Lys1082GlufsTer?
NR_102371.1:n.244-11433_244-11430del (MFF-DT)
XM_005246276.2:c.3244_3247del (COL4A3) XP_005246333.1:p.Lys1082GlufsTer?
XM_005246277.2:c.3139_3142del (COL4A3) XP_005246334.1:p.Lys1047GlufsTer?
XM_005246280.2:c.*11_*14del (COL4A3) XP_005246337.1:n.*11_*14del
XM_006712245.2:c.3244_3247del (COL4A3) XP_006712308.1:p.Lys1082GlufsTer?
XM_011510555.1:c.3244_3247del (COL4A3) XP_011508857.1:p.Lys1082GlufsTer?
XM_011510556.1:c.2005_2008del (COL4A3) XP_011508858.1:p.Lys669GlufsTer?
XR_241280.2:n.3382_3385del (COL4A3)
XM_005246277.3:c.3139_3142del (COL4A3) XP_005246334.1:p.Lys1047GlufsTer?
XM_005246280.3:c.*11_*14del (COL4A3) XP_005246337.1:n.*11_*14del
XM_006712245.3:c.3244_3247del (COL4A3) XP_006712308.1:p.Lys1082GlufsTer?
XM_011510556.2:c.2005_2008del (COL4A3) XP_011508858.1:p.Lys669GlufsTer?
XM_017003295.1:c.3244_3247del (COL4A3) XP_016858784.1:p.Lys1082GlufsTer?
XR_001738601.1:n.3382_3385del (COL4A3)
XR_241280.3:n.3382_3385del (COL4A3)
NM_000091.5:c.3244_3247del (COL4A3) MANE Select NP_000082.2:p.Lys1082GlufsTer?
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