Canonical Allele Identifier: CA2633932548

Gene: CDH1

Linked Data

• gnomAD v4: 16-68823501-C-CTAAGGTGGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823501_68823502insTAAGGTGGTCA , CM000678.2:g.68823501_68823502insTAAGGTGGTCA	GRCh38
NC_000016.9:g.68857404_68857405insTAAGGTGGTCA , CM000678.1:g.68857404_68857405insTAAGGTGGTCA	GRCh37
NC_000016.8:g.67414905_67414906insTAAGGTGGTCA	NCBI36
NG_008021.1:g.91210_91211insTAAGGTGGTCA , LRG_301:g.91210_91211insTAAGGTGGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2039_2040insTAAGGTGGTCA MANE Select	ENSP00000261769.4:p.Leu681LysfsTer5
ENST00000261769.9:c.2039_2040insTAAGGTGGTCA	ENSP00000261769.4:p.Leu681LysfsTer5
ENST00000422392.6:c.1856_1857insTAAGGTGGTCA	ENSP00000414946.2:p.Leu620LysfsTer5
ENST00000562118.1:n.257_258insTAAGGTGGTCA
ENST00000562836.5:n.2110_2111insTAAGGTGGTCA
ENST00000566510.5:c.*705_*706insTAAGGTGGTCA	ENSP00000458139.1:n.*705_*706insTAAGGTGGTCA
ENST00000566612.5:c.*279_*280insTAAGGTGGTCA	ENSP00000454782.1:n.*279_*280insTAAGGTGGTCA
ENST00000611625.4:c.2102_2103insTAAGGTGGTCA	ENSP00000481063.1:p.Leu702LysfsTer5
ENST00000612417.4:c.1830+1382_1830+1383insTAAGGTGGTCA	ENSP00000478360.1:n.1830+1382_1830+1383insTAAGGTGGTCA
ENST00000621016.4:c.1865+1347_1865+1348insTAAGGTGGTCA	ENSP00000480664.1:n.1865+1347_1865+1348insTAAGGTGGTCA
NM_004360.3:c.2039_2040insTAAGGTGGTCA , LRG_301t1:c.2039_2040insTAAGGTGGTCA	NP_004351.1:p.Leu681LysfsTer5
XM_011523488.1:c.1304_1305insTAAGGTGGTCA	XP_011521790.1:p.Leu436LysfsTer5
XM_011523489.1:c.1304_1305insTAAGGTGGTCA	XP_011521791.1:p.Leu436LysfsTer5
NM_001317184.1:c.1856_1857insTAAGGTGGTCA	NP_001304113.1:p.Leu620LysfsTer5
NM_001317185.1:c.491_492insTAAGGTGGTCA	NP_001304114.1:p.Leu165LysfsTer5
NM_001317186.1:c.74_75insTAAGGTGGTCA	NP_001304115.1:p.Leu26LysfsTer5
NM_004360.4:c.2039_2040insTAAGGTGGTCA	NP_004351.1:p.Leu681LysfsTer5
NM_004360.5:c.2039_2040insTAAGGTGGTCA MANE Select	NP_004351.1:p.Leu681LysfsTer5
NM_001317184.2:c.1856_1857insTAAGGTGGTCA	NP_001304113.1:p.Leu620LysfsTer5
NM_001317185.2:c.491_492insTAAGGTGGTCA	NP_001304114.1:p.Leu165LysfsTer5
NM_001317186.2:c.74_75insTAAGGTGGTCA	NP_001304115.1:p.Leu26LysfsTer5