Canonical Allele Identifier: CA658658494
Community Standard Title: NM_004360.5(CDH1):c.1948_1949dup (p.Ile651SerfsTer3)
Gene: CDH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823410_68823411dup , CM000678.2:g.68823410_68823411dup GRCh38
NC_000016.9:g.68857313_68857314dup , CM000678.1:g.68857313_68857314dup GRCh37
NC_000016.8:g.67414814_67414815dup NCBI36
NG_008021.1:g.91119_91120dup , LRG_301:g.91119_91120dup

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1948_1949dup MANE Select NP_004351.1:p.Ile651SerfsTer3
ENST00000261769.10:c.1948_1949dup MANE Select ENSP00000261769.4:p.Ile651SerfsTer3
NM_001317184.1:c.1765_1766dup NP_001304113.1:p.Ile590SerfsTer3
NM_001317184.2:c.1765_1766dup NP_001304113.1:p.Ile590SerfsTer3
NM_001317185.1:c.400_401dup NP_001304114.1:p.Ile135SerfsTer3
NM_001317185.2:c.400_401dup NP_001304114.1:p.Ile135SerfsTer3
NM_001317186.1:c.-18_-17dup NP_001304115.1:n.-18_-17dup
NM_001317186.2:c.-18_-17dup NP_001304115.1:n.-18_-17dup
NM_004360.3:c.1948_1949dup , LRG_301t1:c.1948_1949dup NP_004351.1:p.Ile651SerfsTer3
NM_004360.4:c.1948_1949dup NP_004351.1:p.Ile651SerfsTer3
ENST00000261769.9:c.1948_1949dup ENSP00000261769.4:p.Ile651SerfsTer3
ENST00000422392.6:c.1765_1766dup ENSP00000414946.2:p.Ile590SerfsTer3
ENST00000562118.1:n.166_167dup
ENST00000562836.5:n.2019_2020dup
ENST00000566510.5:c.*614_*615dup ENSP00000458139.1:n.*614_*615dup
ENST00000566612.5:c.*188_*189dup ENSP00000454782.1:n.*188_*189dup
ENST00000611625.4:c.2011_2012dup ENSP00000481063.1:p.Ile672SerfsTer3
ENST00000612417.4:c.1830+1291_1830+1292dup ENSP00000478360.1:n.1830+1291_1830+1292dup
ENST00000621016.4:c.1865+1256_1865+1257dup ENSP00000480664.1:n.1865+1256_1865+1257dup
XM_011523488.1:c.1213_1214dup XP_011521790.1:p.Ile406SerfsTer3
XM_011523489.1:c.1213_1214dup XP_011521791.1:p.Ile406SerfsTer3
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