Canonical Allele Identifier: CA10577553

Gene: CDH1

Linked Data

• ClinVar Variation Id: 234904
• ClinVar RCV Id: RCV000214510 ; RCV003328303
• dbSNP Id: rs876661286
• MyVariant Identifiers: chr16:g.68867300_68867301insA (hg19) ; chr16:g.68833397_68833398insA (hg38)
• ERepo: CA10577553/MONDO:0007648/007 ; CA10577553/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833397_68833398insA , CM000678.2:g.68833397_68833398insA	GRCh38
NC_000016.9:g.68867300_68867301insA , CM000678.1:g.68867300_68867301insA	GRCh37
NC_000016.8:g.67424801_67424802insA	NCBI36
NG_008021.1:g.101106_101107insA , LRG_301:g.101106_101107insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2547_2548insA MANE Select	ENSP00000261769.4:p.Ser850IlefsTer11
ENST00000261769.9:c.2547_2548insA	ENSP00000261769.4:p.Ser850IlefsTer11
ENST00000422392.6:c.2364_2365insA	ENSP00000414946.2:p.Ser789IlefsTer11
ENST00000562118.1:n.765_766insA
ENST00000562836.5:n.2618_2619insA
ENST00000566510.5:c.*1213_*1214insA	ENSP00000458139.1:n.*1213_*1214insA
ENST00000566612.5:c.*787_*788insA	ENSP00000454782.1:n.*787_*788insA
ENST00000611625.4:c.2610_2611insA	ENSP00000481063.1:p.Ser871IlefsTer11
ENST00000612417.4:c.1854-794_1854-793insA	ENSP00000478360.1:n.1854-794_1854-793insA
ENST00000621016.4:c.1866-806_1866-805insA	ENSP00000480664.1:n.1866-806_1866-805insA
NM_004360.3:c.2547_2548insA , LRG_301t1:c.2547_2548insA	NP_004351.1:p.Ser850IlefsTer11
XM_011523488.1:c.1812_1813insA	XP_011521790.1:p.Ser605IlefsTer11
XM_011523489.1:c.1812_1813insA	XP_011521791.1:p.Ser605IlefsTer11
NM_001317184.1:c.2364_2365insA	NP_001304113.1:p.Ser789IlefsTer11
NM_001317185.1:c.999_1000insA	NP_001304114.1:p.Ser334IlefsTer11
NM_001317186.1:c.582_583insA	NP_001304115.1:p.Ser195IlefsTer11
NM_004360.4:c.2547_2548insA	NP_004351.1:p.Ser850IlefsTer11
NM_004360.5:c.2547_2548insA MANE Select	NP_004351.1:p.Ser850IlefsTer11
NM_001317184.2:c.2364_2365insA	NP_001304113.1:p.Ser789IlefsTer11
NM_001317185.2:c.999_1000insA	NP_001304114.1:p.Ser334IlefsTer11
NM_001317186.2:c.582_583insA	NP_001304115.1:p.Ser195IlefsTer11