Linked Data
dbSNP Id:
rs1567523436
gnomAD v2:
16-66547639-C-CA
gnomAD v4:
16-66513736-C-CA
MyVariant Identifiers:
chr16:g.66547639_66547640insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513737dup , CM000678.2:g.66513737dup | GRCh38 |
| NC_000016.9:g.66547640dup , CM000678.1:g.66547640dup | GRCh37 |
| NC_000016.8:g.65105141dup | NCBI36 |
| NG_016862.1:g.41676dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.525dup | ENSP00000299697.9:p.Val176CysfsTer5 | |
| ENST00000417693.8:c.639dup | ENSP00000407469.5:p.Val214CysfsTer5 | |
| ENST00000451102.7:c.600dup | ENSP00000414334.4:p.Val201CysfsTer5 | |
| ENST00000527284.6:c.563-1671dup | ||
| ENST00000527800.6:c.402dup | ENSP00000433770.1:p.Val135CysfsTer5 | |
| ENST00000544898.6:c.693dup MANE Select | ENSP00000440898.2:p.Val232CysfsTer5 | |
| ENST00000567357.6:c.*551dup | ENSP00000457959.2:n.*551dup | |
| ENST00000569718.6:c.431dup | ENSP00000464313.2:p.Phe145ValfsTer? | |
| ENST00000620035.5:c.449dup | ENSP00000483833.2:p.Phe151ValfsTer? | |
| ENST00000676538.1:c.276dup | ||
| ENST00000676904.1:c.164dup | ||
| ENST00000677296.1:n.75dup | ||
| ENST00000677379.1:c.334dup | ENSP00000503672.1:n.334dup | |
| ENST00000677420.1:c.402dup | ENSP00000504648.1:p.Val135CysfsTer5 | |
| ENST00000677555.1:c.402dup | ENSP00000503331.1:p.Val135CysfsTer5 | |
| ENST00000677715.1:c.402dup | ENSP00000502950.1:p.Val135CysfsTer5 | |
| ENST00000677753.1:n.75dup | ||
| ENST00000677961.1:n.105dup | ||
| ENST00000678015.1:c.402dup | ENSP00000502959.1:p.Val135CysfsTer5 | |
| ENST00000678190.1:c.75dup | ENSP00000503824.1:p.Val26CysfsTer18 | |
| ENST00000678282.1:n.75dup | ||
| ENST00000678297.1:c.402dup | ENSP00000503472.1:p.Val135CysfsTer5 | |
| ENST00000299697.11:c.693dup | ENSP00000299697.8:p.Val232CysfsTer5 | |
| ENST00000417693.7:c.765dup | ENSP00000407469.4:p.Val256CysfsTer5 | |
| ENST00000451102.6:c.819dup | ENSP00000414334.3:p.Val274CysfsTer5 | |
| ENST00000525974.5:c.402dup | ENSP00000434594.1:p.Val135CysfsTer5 | |
| ENST00000527284.5:c.600dup | ENSP00000435312.1:p.Val201CysfsTer5 | |
| ENST00000527800.5:c.402dup | ENSP00000433770.1:p.Val135CysfsTer5 | |
| ENST00000544898.5:c.693dup | ENSP00000440898.2:p.Val232CysfsTer5 | |
| ENST00000545043.6:c.618dup | ENSP00000438143.2:p.Val207CysfsTer5 | |
| ENST00000561527.5:n.252dup | ||
| ENST00000561728.1:c.142dup | ||
| ENST00000561905.2:c.47dup | ||
| ENST00000562552.5:n.509dup | ||
| ENST00000563099.5:n.220dup | ||
| ENST00000563369.6:c.402dup | ENSP00000463560.1:p.Val135CysfsTer5 | |
| ENST00000564792.1:n.348dup | ||
| ENST00000564917.5:c.744dup | ENSP00000455187.1:p.Val249CysfsTer5 | |
| ENST00000567357.5:c.*551dup | ENSP00000457959.1:n.*551dup | |
| ENST00000569718.5:c.418dup | ||
| ENST00000620035.4:c.639dup | ENSP00000483833.1:p.Val214CysfsTer5 | |
| NM_001172643.1:c.600dup | NP_001166114.1:p.Val201CysfsTer5 | |
| NM_001172644.1:c.618dup | NP_001166115.1:p.Val207CysfsTer5 | |
| NM_001172645.1:c.639dup | NP_001166116.1:p.Val214CysfsTer5 | |
| NM_001271934.1:c.546dup | NP_001258863.1:p.Val183CysfsTer5 | |
| NM_001271935.1:c.431dup | NP_001258864.1:p.Phe145ValfsTer? | |
| NM_001272050.1:c.402dup | NP_001258979.1:p.Val135CysfsTer5 | |
| NM_004614.4:c.693dup | NP_004605.4:p.Val232CysfsTer5 | |
| NR_073520.1:n.1972dup | ||
| NM_001172644.2:c.618dup | NP_001166115.1:p.Val207CysfsTer5 | |
| NM_001271934.2:c.546dup | NP_001258863.1:p.Val183CysfsTer5 | |
| NM_001272050.2:c.402dup | NP_001258979.1:p.Val135CysfsTer5 | |
| NM_004614.5:c.693dup MANE Select | NP_004605.4:p.Val232CysfsTer5 | |
| NR_073520.2:n.1682dup | ||
| NM_001172645.2:c.639dup | NP_001166116.1:p.Val214CysfsTer5 |