Linked Data
ClinVar Variation Id:
438817
ClinVar RCV Id:
RCV000505783
dbSNP Id:
rs1555053981
PubMed:
PMID:28301459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57796642del , CM000673.2:g.57796642del | GRCh38 |
| NC_000011.9:g.57564114del , CM000673.1:g.57564114del | GRCh37 |
| NC_000011.8:g.57320690del | NCBI36 |
| NG_029078.1:g.39881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531007.2:c.606del (CTNND1) | ENSP00000431208.2:p.Pro203LeufsTer? | |
| ENST00000681984.1:n.875del (CTNND1) | ||
| ENST00000682741.1:n.1070del (CTNND1) | ||
| ENST00000682814.1:n.1035del (CTNND1) | ||
| ENST00000399050.10:c.606del (CTNND1) MANE Select | ENSP00000382004.5:p.Pro203LeufsTer? | |
| ENST00000534647.2:n.1248del | ||
| ENST00000673683.1:c.606del (CTNND1) | ENSP00000500962.1:p.Pro203LeufsTer? | |
| ENST00000673781.1:c.*685del | ENSP00000501282.1:n.*685del | |
| ENST00000673810.1:c.*765del | ENSP00000501043.1:n.*765del | |
| ENST00000673826.1:c.534del (CTNND1) | ENSP00000501029.1:p.Pro179LeufsTer? | |
| ENST00000674015.1:c.534del (CTNND1) | ENSP00000501126.1:p.Pro179LeufsTer? | |
| ENST00000674060.1:c.923del | ||
| ENST00000674106.1:c.534del (CTNND1) | ENSP00000501005.1:p.Pro179LeufsTer? | |
| ENST00000674116.1:c.*757del | ENSP00000501279.1:n.*757del | |
| ENST00000358694.10:c.606del (CTNND1) | ENSP00000351527.6:p.Pro203LeufsTer? | |
| ENST00000361332.8:c.606del (CTNND1) | ENSP00000354823.4:p.Pro203LeufsTer? | |
| ENST00000361391.10:c.606del (CTNND1) | ENSP00000354785.6:p.Pro203LeufsTer? | |
| ENST00000361796.9:c.606del (CTNND1) | ENSP00000354907.5:p.Pro203LeufsTer? | |
| ENST00000399050.8:c.606del (CTNND1) | ENSP00000382004.4:p.Pro203LeufsTer? | |
| ENST00000415361.6:c.303del (CTNND1) | ENSP00000403518.2:p.Pro102LeufsTer? | |
| ENST00000426142.6:c.303del (CTNND1) | ENSP00000409930.2:p.Pro102LeufsTer? | |
| ENST00000428599.6:c.606del (CTNND1) | ENSP00000413586.2:p.Pro203LeufsTer? | |
| ENST00000524630.5:c.606del (CTNND1) | ENSP00000436543.1:p.Pro203LeufsTer? | |
| ENST00000525902.5:c.-13-5091del (CTNND1) | ENSP00000434672.1:n.-13-5091del | |
| ENST00000526357.5:c.444del (CTNND1) | ENSP00000433334.1:p.Pro149LeufsTer? | |
| ENST00000526772.5:c.-13-5091del (CTNND1) | ENSP00000433158.1:n.-13-5091del | |
| ENST00000526938.5:c.606del (CTNND1) | ENSP00000432041.1:p.Pro203LeufsTer? | |
| ENST00000527467.5:c.-13-5091del (CTNND1) | ENSP00000434900.1:n.-13-5091del | |
| ENST00000528232.5:c.303del (CTNND1) | ENSP00000435266.1:p.Pro102LeufsTer? | |
| ENST00000528621.5:c.444del (CTNND1) | ENSP00000432243.1:p.Pro149LeufsTer? | |
| ENST00000529526.5:c.444del (CTNND1) | ENSP00000436323.1:p.Pro149LeufsTer? | |
| ENST00000529873.5:c.444del (CTNND1) | ENSP00000435494.1:p.Pro149LeufsTer? | |
| ENST00000529919.5:c.606del (CTNND1) | ENSP00000434808.1:p.Pro203LeufsTer? | |
| ENST00000529986.5:c.303del (CTNND1) | ENSP00000437156.1:p.Pro102LeufsTer? | |
| ENST00000530094.5:c.303del (CTNND1) | ENSP00000437327.1:p.Pro102LeufsTer? | |
| ENST00000530748.5:c.444del (CTNND1) | ENSP00000436744.1:p.Pro149LeufsTer? | |
| ENST00000531014.5:c.-13-5091del (CTNND1) | ENSP00000432623.1:n.-13-5091del | |
| ENST00000532245.5:c.303del (CTNND1) | ENSP00000434017.1:p.Pro102LeufsTer? | |
| ENST00000532463.5:c.303del (CTNND1) | ENSP00000432075.1:p.Pro102LeufsTer? | |
| ENST00000532649.5:c.444del (CTNND1) | ENSP00000435379.1:p.Pro149LeufsTer? | |
| ENST00000532787.5:c.303del (CTNND1) | ENSP00000434949.1:p.Pro102LeufsTer? | |
| ENST00000532844.5:c.444del (CTNND1) | ENSP00000433276.1:p.Pro149LeufsTer? | |
| ENST00000533189.1:c.-13-5091del (CTNND1) | ENSP00000435242.1:n.-13-5091del | |
| ENST00000533667.5:c.-13-5091del (CTNND1) | ENSP00000437051.1:n.-13-5091del | |
| ENST00000534579.5:c.444del (CTNND1) | ENSP00000435789.1:p.Pro149LeufsTer? | |
| ENST00000534647.1:c.372del (CTNND1) | ENSP00000434202.1:p.Pro125LeufsTer? | |
| NM_001085458.1:c.606del (CTNND1) | NP_001078927.1:p.Pro203LeufsTer? | |
| NM_001085459.1:c.606del (CTNND1) | NP_001078928.1:p.Pro203LeufsTer? | |
| NM_001085460.1:c.606del (CTNND1) | NP_001078929.1:p.Pro203LeufsTer? | |
| NM_001085461.1:c.606del (CTNND1) | NP_001078930.1:p.Pro203LeufsTer? | |
| NM_001085462.1:c.606del (CTNND1) | NP_001078931.1:p.Pro203LeufsTer? | |
| NM_001085463.1:c.303del (CTNND1) | NP_001078932.1:p.Pro102LeufsTer? | |
| NM_001085464.1:c.303del (CTNND1) | NP_001078933.1:p.Pro102LeufsTer? | |
| NM_001085465.1:c.303del (CTNND1) | NP_001078934.1:p.Pro102LeufsTer? | |
| NM_001085466.1:c.303del (CTNND1) | NP_001078935.1:p.Pro102LeufsTer? | |
| NM_001085467.1:c.303del (CTNND1) | NP_001078936.1:p.Pro102LeufsTer? | |
| NM_001085468.1:c.303del (CTNND1) | NP_001078937.1:p.Pro102LeufsTer? | |
| NM_001085469.1:c.303del (CTNND1) | NP_001078938.1:p.Pro102LeufsTer? | |
| NM_001206883.1:c.444del (CTNND1) | NP_001193812.1:p.Pro149LeufsTer? | |
| NM_001206884.1:c.444del (CTNND1) | NP_001193813.1:p.Pro149LeufsTer? | |
| NM_001206885.1:c.606del (CTNND1) | NP_001193814.1:p.Pro203LeufsTer? | |
| NM_001206886.1:c.444del (CTNND1) | NP_001193815.1:p.Pro149LeufsTer? | |
| NM_001206887.1:c.444del (CTNND1) | NP_001193816.1:p.Pro149LeufsTer? | |
| NM_001206888.1:c.444del (CTNND1) | NP_001193817.1:p.Pro149LeufsTer? | |
| NM_001206889.1:c.444del (CTNND1) | NP_001193818.1:p.Pro149LeufsTer? | |
| NM_001206890.1:c.303del (CTNND1) | NP_001193819.1:p.Pro102LeufsTer? | |
| NM_001206891.1:c.444del (CTNND1) | NP_001193820.1:p.Pro149LeufsTer? | |
| NM_001331.2:c.606del (CTNND1) | NP_001322.1:p.Pro203LeufsTer? | |
| NR_037646.1:n.1165del (TMX2-CTNND1) | ||
| NM_001085458.2:c.606del (CTNND1) MANE Select | NP_001078927.1:p.Pro203LeufsTer? | |
| NM_001085459.2:c.606del (CTNND1) | NP_001078928.1:p.Pro203LeufsTer? | |
| NM_001085460.2:c.606del (CTNND1) | NP_001078929.1:p.Pro203LeufsTer? | |
| NM_001085461.2:c.606del (CTNND1) | NP_001078930.1:p.Pro203LeufsTer? | |
| NM_001085462.2:c.606del (CTNND1) | NP_001078931.1:p.Pro203LeufsTer? | |
| NM_001085463.2:c.303del (CTNND1) | NP_001078932.1:p.Pro102LeufsTer? | |
| NM_001085464.2:c.303del (CTNND1) | NP_001078933.1:p.Pro102LeufsTer? | |
| NM_001085465.2:c.303del (CTNND1) | NP_001078934.1:p.Pro102LeufsTer? | |
| NM_001085466.2:c.303del (CTNND1) | NP_001078935.1:p.Pro102LeufsTer? | |
| NM_001085467.2:c.303del (CTNND1) | NP_001078936.1:p.Pro102LeufsTer? | |
| NM_001085468.2:c.303del (CTNND1) | NP_001078937.1:p.Pro102LeufsTer? | |
| NM_001085469.2:c.303del (CTNND1) | NP_001078938.1:p.Pro102LeufsTer? | |
| NM_001206883.2:c.444del (CTNND1) | NP_001193812.1:p.Pro149LeufsTer? | |
| NM_001206884.2:c.444del (CTNND1) | NP_001193813.1:p.Pro149LeufsTer? | |
| NM_001206885.2:c.606del (CTNND1) | NP_001193814.1:p.Pro203LeufsTer? | |
| NM_001206886.2:c.444del (CTNND1) | NP_001193815.1:p.Pro149LeufsTer? | |
| NM_001206887.2:c.444del (CTNND1) | NP_001193816.1:p.Pro149LeufsTer? | |
| NM_001206888.2:c.444del (CTNND1) | NP_001193817.1:p.Pro149LeufsTer? | |
| NM_001206889.2:c.444del (CTNND1) | NP_001193818.1:p.Pro149LeufsTer? | |
| NM_001206890.2:c.303del (CTNND1) | NP_001193819.1:p.Pro102LeufsTer? | |
| NM_001206891.2:c.444del (CTNND1) | NP_001193820.1:p.Pro149LeufsTer? | |
| NM_001331.3:c.606del (CTNND1) | NP_001322.1:p.Pro203LeufsTer? |