MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838796_112838799del , CM000667.2:g.112838796_112838799del | GRCh38 |
| NC_000005.9:g.112174493_112174496del , CM000667.1:g.112174493_112174496del | GRCh37 |
| NC_000005.8:g.112202392_112202395del | NCBI36 |
| NG_008481.4:g.151276_151279del , LRG_130:g.151276_151279del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2867_2870del | ENSP00000484935.2:n.2867_2870del | |
| ENST00000504915.3:c.3256_3259del | ENSP00000473355.2:p.Ser1086GlyfsTer? | |
| ENST00000505350.2:c.*3208_*3211del | ENSP00000481752.1:n.*3208_*3211del | |
| ENST00000507379.6:c.3148_3151del | ENSP00000423224.2:p.Ser1050GlyfsTer? | |
| ENST00000509732.6:c.3202_3205del | ENSP00000426541.2:p.Ser1068GlyfsTer? | |
| ENST00000512211.7:c.3202_3205del | ENSP00000423828.3:p.Ser1068GlyfsTer? | |
| ENST00000257430.9:c.3202_3205del MANE Select | ENSP00000257430.4:p.Ser1068GlyfsTer? | |
| ENST00000257430.8:c.3202_3205del | ENSP00000257430.4:p.Ser1068GlyfsTer? | |
| ENST00000502371.2:c.1555_1558del | ||
| ENST00000507379.5:c.3148_3151del | ENSP00000423224.1:p.Ser1050GlyfsTer? | |
| ENST00000508376.6:c.3202_3205del | ENSP00000427089.2:p.Ser1068GlyfsTer? | |
| ENST00000508624.5:c.*2524_*2527del | ENSP00000424265.1:n.*2524_*2527del | |
| ENST00000512211.6:c.3202_3205del | ENSP00000423828.2:p.Ser1068GlyfsTer? | |
| ENST00000520401.1:c.230+9824_230+9827del | ||
| NM_000038.5:c.3202_3205del | NP_000029.2:p.Ser1068GlyfsTer? | |
| NM_001127510.2:c.3202_3205del | NP_001120982.1:p.Ser1068GlyfsTer? | |
| NM_001127511.2:c.3148_3151del | NP_001120983.2:p.Ser1050GlyfsTer? | |
| NM_001354895.1:c.3202_3205del | NP_001341824.1:p.Ser1068GlyfsTer? | |
| NM_001354896.1:c.3256_3259del | NP_001341825.1:p.Ser1086GlyfsTer? | |
| NM_001354897.1:c.3232_3235del | NP_001341826.1:p.Ser1078GlyfsTer? | |
| NM_001354898.1:c.3127_3130del | NP_001341827.1:p.Ser1043GlyfsTer? | |
| NM_001354899.1:c.3118_3121del | NP_001341828.1:p.Ser1040GlyfsTer? | |
| NM_001354900.1:c.3079_3082del | NP_001341829.1:p.Ser1027GlyfsTer? | |
| NM_001354901.1:c.3025_3028del | NP_001341830.1:p.Ser1009GlyfsTer? | |
| NM_001354902.1:c.2929_2932del | NP_001341831.1:p.Ser977GlyfsTer? | |
| NM_001354903.1:c.2899_2902del | NP_001341832.1:p.Ser967GlyfsTer? | |
| NM_001354904.1:c.2824_2827del | NP_001341833.1:p.Ser942GlyfsTer? | |
| NM_001354905.1:c.2722_2725del | NP_001341834.1:p.Ser908GlyfsTer? | |
| NM_001354906.1:c.2353_2356del | NP_001341835.1:p.Ser785GlyfsTer? | |
| NM_000038.6:c.3202_3205del MANE Select | NP_000029.2:p.Ser1068GlyfsTer? | |
| NM_001127510.3:c.3202_3205del | NP_001120982.1:p.Ser1068GlyfsTer? | |
| NM_001127511.3:c.3148_3151del | NP_001120983.2:p.Ser1050GlyfsTer? | |
| NM_001354895.2:c.3202_3205del | NP_001341824.1:p.Ser1068GlyfsTer? | |
| NM_001354896.2:c.3256_3259del | NP_001341825.1:p.Ser1086GlyfsTer? | |
| NM_001354897.2:c.3232_3235del | NP_001341826.1:p.Ser1078GlyfsTer? | |
| NM_001354898.2:c.3127_3130del | NP_001341827.1:p.Ser1043GlyfsTer? | |
| NM_001354899.2:c.3118_3121del | NP_001341828.1:p.Ser1040GlyfsTer? | |
| NM_001354900.2:c.3079_3082del | NP_001341829.1:p.Ser1027GlyfsTer? | |
| NM_001354901.2:c.3025_3028del | NP_001341830.1:p.Ser1009GlyfsTer? | |
| NM_001354902.2:c.2929_2932del | NP_001341831.1:p.Ser977GlyfsTer? | |
| NM_001354903.2:c.2899_2902del | NP_001341832.1:p.Ser967GlyfsTer? | |
| NM_001354904.2:c.2824_2827del | NP_001341833.1:p.Ser942GlyfsTer? | |
| NM_001354905.2:c.2722_2725del | NP_001341834.1:p.Ser908GlyfsTer? | |
| NM_001354906.2:c.2353_2356del | NP_001341835.1:p.Ser785GlyfsTer? |