Canonical Allele Identifier: CA166884

Gene: CDH1

Linked Data

• ClinVar Variation Id: 141951
• ClinVar RCV Id: RCV000130681 ; RCV003328217
• dbSNP Id: rs587782135
• MyVariant Identifiers: chr16:g.68867302_68867303del (hg19) ; chr16:g.68833399_68833400del (hg38)
• ERepo: CA166884/MONDO:0007648/007 ; CA166884/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833399_68833400del , CM000678.2:g.68833399_68833400del	GRCh38
NC_000016.9:g.68867302_68867303del , CM000678.1:g.68867302_68867303del	GRCh37
NC_000016.8:g.67424803_67424804del	NCBI36
NG_008021.1:g.101108_101109del , LRG_301:g.101108_101109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2549_2550del MANE Select	ENSP00000261769.4:p.Ser850PhefsTer10
ENST00000261769.9:c.2549_2550del	ENSP00000261769.4:p.Ser850PhefsTer10
ENST00000422392.6:c.2366_2367del	ENSP00000414946.2:p.Ser789PhefsTer10
ENST00000562118.1:n.767_768del
ENST00000562836.5:n.2620_2621del
ENST00000566510.5:c.*1215_*1216del	ENSP00000458139.1:n.*1215_*1216del
ENST00000566612.5:c.*789_*790del	ENSP00000454782.1:n.*789_*790del
ENST00000611625.4:c.2612_2613del	ENSP00000481063.1:p.Ser871PhefsTer10
ENST00000612417.4:c.1854-792_1854-791del	ENSP00000478360.1:n.1854-792_1854-791del
ENST00000621016.4:c.1866-804_1866-803del	ENSP00000480664.1:n.1866-804_1866-803del
NM_004360.3:c.2549_2550del , LRG_301t1:c.2549_2550del	NP_004351.1:p.Ser850PhefsTer10
XM_011523488.1:c.1814_1815del	XP_011521790.1:p.Ser605PhefsTer10
XM_011523489.1:c.1814_1815del	XP_011521791.1:p.Ser605PhefsTer10
NM_001317184.1:c.2366_2367del	NP_001304113.1:p.Ser789PhefsTer10
NM_001317185.1:c.1001_1002del	NP_001304114.1:p.Ser334PhefsTer10
NM_001317186.1:c.584_585del	NP_001304115.1:p.Ser195PhefsTer10
NM_004360.4:c.2549_2550del	NP_004351.1:p.Ser850PhefsTer10
NM_004360.5:c.2549_2550del MANE Select	NP_004351.1:p.Ser850PhefsTer10
NM_001317184.2:c.2366_2367del	NP_001304113.1:p.Ser789PhefsTer10
NM_001317185.2:c.1001_1002del	NP_001304114.1:p.Ser334PhefsTer10
NM_001317186.2:c.584_585del	NP_001304115.1:p.Ser195PhefsTer10