Canonical Allele Identifier: CA2695199446
Community Standard Title: NM_014974.3(DIP2C):c.2536dup (p.Gln846ProfsTer4)
Gene: DIP2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.363253dup , CM000672.2:g.363253dup GRCh38
NC_000010.10:g.409193dup , CM000672.1:g.409193dup GRCh37
NC_000010.9:g.399193dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014974.3:c.2536dup MANE Select NP_055789.1:p.Gln846ProfsTer4
ENST00000280886.12:c.2536dup MANE Select ENSP00000280886.6:p.Gln846ProfsTer4
NM_014974.2:c.2536dup NP_055789.1:p.Gln846ProfsTer4
ENST00000280886.11:c.2536dup ENSP00000280886.6:p.Gln846ProfsTer4
ENST00000381496.7:c.2479dup ENSP00000370907.4:p.Gln827ProfsTer4
ENST00000634311.1:c.2704dup ENSP00000489203.1:p.Gln902ProfsTer4
XM_005252426.2:c.2704dup XP_005252483.1:p.Gln902ProfsTer4
XM_005252426.3:c.2704dup XP_005252483.1:p.Gln902ProfsTer4
XM_005252427.2:c.2536dup XP_005252484.1:p.Gln846ProfsTer4
XM_005252427.4:c.2536dup XP_005252484.1:p.Gln846ProfsTer4
XM_005252428.3:c.2704dup XP_005252485.1:p.Gln902ProfsTer4
XM_005252428.4:c.2704dup XP_005252485.1:p.Gln902ProfsTer4
XM_005252430.1:c.625dup XP_005252487.1:p.Gln209ProfsTer4
XM_005252430.3:c.847dup XP_005252487.2:p.Gln283ProfsTer4
XM_011519428.1:c.2716dup XP_011517730.1:p.Gln906ProfsTer4
XM_011519428.3:c.2716dup XP_011517730.1:p.Gln906ProfsTer4
XM_011519429.1:c.2716dup XP_011517731.1:p.Gln906ProfsTer4
XM_011519429.3:c.2716dup XP_011517731.1:p.Gln906ProfsTer4
XM_011519430.1:c.2548dup XP_011517732.1:p.Gln850ProfsTer4
XM_011519430.2:c.2548dup XP_011517732.1:p.Gln850ProfsTer4
XM_011519431.1:c.2548dup XP_011517733.1:p.Gln850ProfsTer4
XM_011519431.2:c.2548dup XP_011517733.1:p.Gln850ProfsTer4
XM_011519432.1:c.2215dup XP_011517734.1:p.Gln739ProfsTer4
XM_011519432.2:c.2215dup XP_011517734.1:p.Gln739ProfsTer4
XM_011519433.1:c.499dup XP_011517735.1:p.Gln167ProfsTer4
XM_011519433.3:c.499dup XP_011517735.1:p.Gln167ProfsTer4
XM_017015977.1:c.847dup XP_016871466.1:p.Gln283ProfsTer4