Linked Data
ClinVar Variation Id:
126217
dbSNP Id:
rs80359773
gnomAD v2:
13-32972321-T-TA
gnomAD v3:
13-32398184-T-TA
gnomAD v4:
13-32398184-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398185dup , CM000675.2:g.32398185dup | GRCh38 |
| NC_000013.10:g.32972322dup , CM000675.1:g.32972322dup | GRCh37 |
| NC_000013.9:g.31870322dup | NCBI36 |
| NG_012772.3:g.87706dup , LRG_293:g.87706dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*195dup | ENSP00000434898.2:n.*195dup | |
| ENST00000528762.2:c.*1039dup | ENSP00000433168.2:n.*1039dup | |
| ENST00000530893.7:c.9303dup | ENSP00000499438.2:p.Tyr3102IlefsTer30 | |
| ENST00000665585.2:c.*1234dup | ENSP00000499570.2:n.*1234dup | |
| ENST00000700202.2:c.9621dup | ENSP00000514856.2:p.Tyr3208IlefsTer30 | |
| ENST00000700202.1:c.2088dup | ENSP00000514856.1:p.Tyr697IlefsTer30 | |
| ENST00000700203.1:n.1799dup | ||
| ENST00000380152.8:c.9672dup MANE Select | ENSP00000369497.3:p.Tyr3225IlefsTer30 | |
| ENST00000544455.6:c.9672dup | ENSP00000439902.1:p.Tyr3225IlefsTer30 | |
| ENST00000614259.2:c.9680dup | ENSP00000506251.1:n.9680dup | |
| ENST00000665585.1:c.2550dup | ||
| ENST00000680887.1:c.9672dup | ENSP00000505508.1:p.Tyr3225IlefsTer30 | |
| ENST00000380152.7:c.9672dup | ENSP00000369497.3:p.Tyr3225IlefsTer30 | |
| ENST00000470094.1:c.755dup | ||
| ENST00000533776.1:n.260dup | ||
| ENST00000544455.5:c.9672dup | ENSP00000439902.1:p.Tyr3225IlefsTer30 | |
| NM_000059.3:c.9672dup , LRG_293t1:c.9672dup | NP_000050.2:p.Tyr3225IlefsTer30 | |
| XM_011535203.1:c.9672dup | XP_011533505.1:p.Tyr3225IlefsTer30 | |
| XM_011535204.1:c.9576dup | XP_011533506.1:p.Tyr3193IlefsTer30 | |
| NM_000059.4:c.9672dup MANE Select | NP_000050.3:p.Tyr3225IlefsTer30 |