Linked Data
ClinVar Variation Id:
299816
dbSNP Id:
rs142609338
ExAC:
10:27822656 T / TA
gnomAD v2:
10-27822656-T-TA
gnomAD v3:
10-27533727-T-TA
gnomAD v4:
10-27533727-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27533728dup , CM000672.2:g.27533728dup | GRCh38 |
| NC_000010.10:g.27822657dup , CM000672.1:g.27822657dup | GRCh37 |
| NC_000010.9:g.27862663dup | NCBI36 |
| NG_032035.1:g.34555dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423465.2:c.86-7dup | ENSP00000407872.2:n.86-7dup | |
| ENST00000535776.6:c.347-7dup | ENSP00000439321.2:n.347-7dup | |
| ENST00000611151.5:c.*48-7dup | ENSP00000483927.2:n.*48-7dup | |
| ENST00000621805.5:c.347-7dup | ENSP00000478479.1:n.347-7dup | |
| ENST00000682082.1:c.260-7dup | ENSP00000507542.1:n.260-7dup | |
| ENST00000682138.1:n.5795-7dup | ||
| ENST00000682173.1:c.57-200dup | ||
| ENST00000682181.1:c.*565-7dup | ENSP00000507392.1:n.*565-7dup | |
| ENST00000682389.1:c.187-200dup | ENSP00000507154.1:n.187-200dup | |
| ENST00000682518.1:n.201-7dup | ||
| ENST00000682668.1:c.613-7dup | ||
| ENST00000682777.1:n.1346dup | ||
| ENST00000682852.1:c.*105-7dup | ENSP00000508341.1:n.*105-7dup | |
| ENST00000682963.1:c.-92-7dup | ENSP00000507532.1:n.-92-7dup | |
| ENST00000683042.1:n.344-7dup | ||
| ENST00000683088.1:n.302-7dup | ||
| ENST00000683385.1:n.93-7dup | ||
| ENST00000683419.1:c.*48-7dup | ENSP00000508094.1:n.*48-7dup | |
| ENST00000683446.1:n.193-7dup | ||
| ENST00000683538.1:c.613-7dup | ||
| ENST00000683755.1:c.260-7dup | ENSP00000506993.1:n.260-7dup | |
| ENST00000683797.1:c.-92-7dup | ENSP00000508179.1:n.-92-7dup | |
| ENST00000683816.1:c.*302-200dup | ENSP00000507834.1:n.*302-200dup | |
| ENST00000683866.1:c.63-7dup | ||
| ENST00000683924.1:c.44-7dup | ENSP00000507963.1:n.44-7dup | |
| ENST00000684134.1:n.5213dup | ||
| ENST00000684393.1:c.*565-7dup | ENSP00000507136.1:n.*565-7dup | |
| ENST00000684501.1:c.260-7dup | ENSP00000507589.1:n.260-7dup | |
| ENST00000356940.11:c.260-7dup MANE Select | ENSP00000349415.7:n.260-7dup | |
| ENST00000356940.10:c.260-7dup | ENSP00000349415.6:n.260-7dup | |
| ENST00000375802.7:c.125-7dup | ENSP00000364960.3:n.125-7dup | |
| ENST00000423465.1:c.597-7dup | ||
| ENST00000465772.5:n.253-7dup | ||
| ENST00000535776.5:c.187-200dup | ENSP00000439321.1:n.187-200dup | |
| ENST00000611151.4:c.188-7dup | ENSP00000483927.1:n.188-7dup | |
| ENST00000621805.4:c.347-7dup | ENSP00000478479.1:n.347-7dup | |
| NM_001256410.1:c.347-7dup | NP_001243339.1:n.347-7dup | |
| NM_001256411.1:c.260-7dup | NP_001243340.1:n.260-7dup | |
| NM_001256412.1:c.187-200dup | NP_001243341.1:n.187-200dup | |
| NM_001256415.1:c.188-7dup | NP_001243344.1:n.188-7dup | |
| NM_021252.4:c.260-7dup | NP_067075.1:n.260-7dup | |
| NR_046172.1:n.394-7dup | ||
| NM_001256410.2:c.347-7dup | NP_001243339.1:n.347-7dup | |
| NM_001256411.2:c.260-7dup | NP_001243340.1:n.260-7dup | |
| NM_001256412.2:c.187-200dup | NP_001243341.1:n.187-200dup | |
| NM_001256415.2:c.188-7dup | NP_001243344.1:n.188-7dup | |
| NM_021252.5:c.260-7dup MANE Select | NP_067075.1:n.260-7dup | |
| NR_046172.2:n.264-7dup |