Canonical Allele Identifier: CA2582341734
Community Standard Title: NM_001845.6(COL4A1):c.2411dup (p.Gly805TrpfsTer3)
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110178975dup , CM000675.2:g.110178975dup GRCh38
NC_000013.10:g.110831322dup , CM000675.1:g.110831322dup GRCh37
NC_000013.9:g.109629323dup NCBI36
NG_011544.2:g.133180dup

Transcript Alleles

HGVS Amino-acid Change
NM_001845.6:c.2411dup MANE Select NP_001836.3:p.Gly805TrpfsTer3
ENST00000375820.10:c.2411dup MANE Select ENSP00000364979.4:p.Gly805TrpfsTer3
NM_001845.5:c.2411dup NP_001836.3:p.Gly805TrpfsTer3
ENST00000375820.8:c.2411dup ENSP00000364979.4:p.Gly805TrpfsTer3
ENST00000649738.1:n.2541dup
XM_011521048.1:c.2219dup XP_011519350.1:p.Gly741TrpfsTer3
XM_011521048.2:c.2219dup XP_011519350.1:p.Gly741TrpfsTer3
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