Canonical Allele Identifier: CA623574842

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1686699
• ClinVar RCV Id: RCV002247211
• dbSNP Id: rs146046879
• gnomAD v2: 16-68857140-C-CAA
• gnomAD v3: 16-68823237-C-CAA
• gnomAD v4: 16-68823237-C-CAA
• MyVariant Identifiers: chr16:g.68857144_68857145insAA (hg19) ; chr16:g.68857140_68857141insAA (hg19) ; chr16:g.68823241_68823242insAA (hg38) ; chr16:g.68823237_68823238insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823254_68823255dup , CM000678.2:g.68823254_68823255dup	GRCh38
NC_000016.9:g.68857157_68857158dup , CM000678.1:g.68857157_68857158dup	GRCh37
NC_000016.8:g.67414658_67414659dup	NCBI36
NG_008021.1:g.90963_90964dup , LRG_301:g.90963_90964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1937-145_1937-144dup MANE Select	ENSP00000261769.4:n.1937-145_1937-144dup
ENST00000261769.9:c.1937-145_1937-144dup	ENSP00000261769.4:n.1937-145_1937-144dup
ENST00000422392.6:c.1754-145_1754-144dup	ENSP00000414946.2:n.1754-145_1754-144dup
ENST00000562836.5:n.2008-145_2008-144dup
ENST00000566510.5:c.*603-145_*603-144dup	ENSP00000458139.1:n.*603-145_*603-144dup
ENST00000566612.5:c.*177-145_*177-144dup	ENSP00000454782.1:n.*177-145_*177-144dup
ENST00000611625.4:c.2000-145_2000-144dup	ENSP00000481063.1:n.2000-145_2000-144dup
ENST00000612417.4:c.1830+1135_1830+1136dup	ENSP00000478360.1:n.1830+1135_1830+1136dup
ENST00000621016.4:c.1865+1100_1865+1101dup	ENSP00000480664.1:n.1865+1100_1865+1101dup
NM_004360.3:c.1937-145_1937-144dup , LRG_301t1:c.1937-145_1937-144dup	NP_004351.1:n.1937-145_1937-144dup
XM_011523488.1:c.1202-145_1202-144dup	XP_011521790.1:n.1202-145_1202-144dup
XM_011523489.1:c.1202-145_1202-144dup	XP_011521791.1:n.1202-145_1202-144dup
NM_001317184.1:c.1754-145_1754-144dup	NP_001304113.1:n.1754-145_1754-144dup
NM_001317185.1:c.389-145_389-144dup	NP_001304114.1:n.389-145_389-144dup
NM_001317186.1:c.-29-145_-29-144dup	NP_001304115.1:n.-29-145_-29-144dup
NM_004360.4:c.1937-145_1937-144dup	NP_004351.1:n.1937-145_1937-144dup
NM_004360.5:c.1937-145_1937-144dup MANE Select	NP_004351.1:n.1937-145_1937-144dup
NM_001317184.2:c.1754-145_1754-144dup	NP_001304113.1:n.1754-145_1754-144dup
NM_001317185.2:c.389-145_389-144dup	NP_001304114.1:n.389-145_389-144dup
NM_001317186.2:c.-29-145_-29-144dup	NP_001304115.1:n.-29-145_-29-144dup