Canonical Allele Identifier: CA2663431916
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

gnomAD v4: 2-227311756-A-ATGAAT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227311758_227311762dup , CM000664.2:g.227311758_227311762dup GRCh38
NC_000002.11:g.228176474_228176478dup , CM000664.1:g.228176474_228176478dup GRCh37
NC_000002.10:g.227884718_227884722dup NCBI36
NG_011591.1:g.152194_152198dup , LRG_230:g.152194_152198dup

Transcript Alleles

HGVS Amino-acid change
ENST00000471862.2:n.2187-28_2187-24dup (COL4A3)
ENST00000682257.1:n.151-28_151-24dup (COL4A3)
ENST00000682970.1:n.227-28_227-24dup (COL4A3)
ENST00000683077.1:n.1868-28_1868-24dup (COL4A3)
ENST00000684413.1:n.2496-28_2496-24dup (COL4A3)
ENST00000684724.1:n.350-28_350-24dup (COL4A3)
ENST00000396578.8:c.4929-28_4929-24dup (COL4A3) MANE Select ENSP00000379823.3:n.4929-28_4929-24dup
ENST00000469504.2:c.722-28_722-24dup (COL4A3) ENSP00000493493.1:n.722-28_722-24dup
ENST00000643388.1:c.442-28_442-24dup (COL4A3) ENSP00000495177.1:n.442-28_442-24dup
ENST00000396578.7:c.4929-28_4929-24dup (COL4A3) ENSP00000379823.3:n.4929-28_4929-24dup
ENST00000469504.1:n.437-28_437-24dup (COL4A3)
NM_000091.4:c.4929-28_4929-24dup , LRG_230t1:c.4929-28_4929-24dup (COL4A3) NP_000082.2:n.4929-28_4929-24dup
NR_102371.1:n.48-6106_48-6102dup (MFF-DT)
XM_005246276.2:c.4756-28_4756-24dup (COL4A3) XP_005246333.1:n.4756-28_4756-24dup
XM_005246277.2:c.4824-28_4824-24dup (COL4A3) XP_005246334.1:n.4824-28_4824-24dup
XM_011510556.1:c.3690-28_3690-24dup (COL4A3) XP_011508858.1:n.3690-28_3690-24dup
XR_241280.2:n.4889-28_4889-24dup (COL4A3)
XM_005246277.3:c.4824-28_4824-24dup (COL4A3) XP_005246334.1:n.4824-28_4824-24dup
XM_011510556.2:c.3690-28_3690-24dup (COL4A3) XP_011508858.1:n.3690-28_3690-24dup
XR_241280.3:n.4889-28_4889-24dup (COL4A3)
NM_000091.5:c.4929-28_4929-24dup (COL4A3) MANE Select NP_000082.2:n.4929-28_4929-24dup
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