ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352241_45352244dup , CM000681.2:g.45352241_45352244dup | GRCh38 |
| NC_000019.9:g.45855499_45855502dup , CM000681.1:g.45855499_45855502dup | GRCh37 |
| NC_000019.8:g.50547339_50547342dup | NCBI36 |
| NG_007067.2:g.23345_23348dup , LRG_461:g.23345_23348dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2156_2159dup | ENSP00000375808.4:p.Phe720LeufsTer? | |
| ENST00000682414.1:c.2156_2159dup | ENSP00000507019.1:p.Phe720LeufsTer? | |
| ENST00000682508.1:n.2185_2188dup | ||
| ENST00000684218.1:c.*1414_*1417dup | ENSP00000507804.1:n.*1414_*1417dup | |
| ENST00000684264.1:n.1712_1715dup | ||
| ENST00000684407.1:c.2033_2036dup | ENSP00000507775.1:p.Phe679LeufsTer? | |
| ENST00000684458.1:c.*642_*645dup | ENSP00000508260.1:n.*642_*645dup | |
| ENST00000684468.1:n.1868_1871dup | ||
| ENST00000391945.10:c.2156_2159dup MANE Select | ENSP00000375809.4:p.Phe720LeufsTer? | |
| ENST00000646507.1:n.2253_2256dup | ||
| ENST00000391941.6:c.2084_2087dup | ENSP00000375805.2:p.Phe696LeufsTer? | |
| ENST00000391942.6:n.1327_1330dup | ||
| ENST00000391944.7:c.1922_1925dup | ENSP00000375808.3:p.Phe642LeufsTer? | |
| ENST00000391945.8:c.2156_2159dup | ENSP00000375809.3:p.Phe720LeufsTer? | |
| ENST00000588652.5:n.2244_2247dup | ||
| NM_000400.3:c.2156_2159dup , LRG_461t1:c.2156_2159dup | NP_000391.1:p.Phe720LeufsTer? | |
| XM_011526611.1:c.2078_2081dup | XP_011524913.1:p.Phe694LeufsTer? | |
| XM_011526611.2:c.2078_2081dup | XP_011524913.1:p.Phe694LeufsTer? | |
| XM_017026467.1:c.2033_2036dup | XP_016881956.1:p.Phe679LeufsTer? | |
| XR_001753633.2:n.2203_2206dup | ||
| XR_001753634.2:n.2139_2142dup | ||
| NM_000400.4:c.2156_2159dup MANE Select | NP_000391.1:p.Phe720LeufsTer? |