Linked Data
ClinVar Variation Id:
8170
ClinVar RCV Id:
RCV000008648
dbSNP Id:
rs587776688
PubMed:
PMID:20920668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75636505_75636506dup , CM000678.2:g.75636505_75636506dup | GRCh38 |
| NC_000016.9:g.75670403_75670404dup , CM000678.1:g.75670403_75670404dup | GRCh37 |
| NC_000016.8:g.74227904_74227905dup | NCBI36 |
| NG_028025.1:g.16182_16183dup , LRG_366:g.16182_16183dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302445.8:c.430_431dup MANE Select | ENSP00000303043.3:p.Tyr145SerfsTer9 | |
| ENST00000302445.7:c.430_431dup | ENSP00000303043.3:p.Tyr145SerfsTer9 | |
| ENST00000319410.9:c.514_515dup | ENSP00000325448.5:p.Tyr173SerfsTer9 | |
| ENST00000562875.5:c.223-408_223-407dup | ENSP00000456185.1:n.223-408_223-407dup | |
| ENST00000564578.5:c.348_349dup | ENSP00000455818.1:p.Ser117PhefsTer3 | |
| ENST00000566249.5:c.232_233dup | ||
| ENST00000566560.5:n.544_545dup | ||
| ENST00000568378.5:c.146+7777_146+7778dup | ENSP00000454512.1:n.146+7777_146+7778dup | |
| ENST00000568682.5:c.-39_-38dup | ENSP00000462057.1:n.-39_-38dup | |
| ENST00000570215.1:c.514_515dup | ENSP00000458028.1:p.Tyr173SerfsTer9 | |
| NM_001130089.1:c.514_515dup , LRG_366t1:c.514_515dup | NP_001123561.1:p.Tyr173SerfsTer9 | |
| NM_005548.2:c.430_431dup | NP_005539.1:p.Tyr145SerfsTer9 | |
| XM_017023217.1:c.-39_-38dup | XP_016878706.1:n.-39_-38dup | |
| NM_001130089.2:c.514_515dup | NP_001123561.1:p.Tyr173SerfsTer9 | |
| NM_001378148.1:c.-39_-38dup | NP_001365077.1:n.-39_-38dup | |
| NM_005548.3:c.430_431dup MANE Select | NP_005539.1:p.Tyr145SerfsTer9 |