ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015876 (NFE)
Genomes Max Group AF
0.00006804 (NFE)
Exomes Max Group AF
0.00016086 (NFE)
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129252248_129252249del , CM000668.2:g.129252248_129252249del | GRCh38 |
| NC_000006.11:g.129573393_129573394del , CM000668.1:g.129573393_129573394del | GRCh37 |
| NC_000006.10:g.129615086_129615087del | NCBI36 |
| NG_008678.1:g.374108_374109del , LRG_409:g.374108_374109del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.2049_2050del | ENSP00000481744.2:p.Arg683SerfsTer21 | |
| ENST00000618192.5:c.2049_2050del | ENSP00000480802.2:p.Arg683SerfsTer21 | |
| ENST00000421865.3:c.2049_2050del MANE Select | ENSP00000400365.2:p.Arg683SerfsTer21 | |
| ENST00000421865.2:c.2049_2050del | ENSP00000400365.2:p.Arg683SerfsTer21 | |
| ENST00000617695.4:c.2049_2050del | ENSP00000481744.1:p.Arg683SerfsTer21 | |
| ENST00000618192.4:c.2049_2050del | ENSP00000480802.1:p.Arg683SerfsTer21 | |
| NM_000426.3:c.2049_2050del , LRG_409t1:c.2049_2050del | NP_000417.2:p.Arg683SerfsTer21 | |
| NM_001079823.1:c.2049_2050del | NP_001073291.1:p.Arg683SerfsTer21 | |
| XM_005266981.2:c.2049_2050del | XP_005267038.1:p.Arg683SerfsTer21 | |
| XM_005266982.2:c.2049_2050del | XP_005267039.1:p.Arg683SerfsTer21 | |
| XM_011535820.1:c.2049_2050del | XP_011534122.1:p.Arg683SerfsTer21 | |
| XM_005266981.3:c.2049_2050del | XP_005267038.1:p.Arg683SerfsTer21 | |
| XM_005266982.3:c.2049_2050del | XP_005267039.1:p.Arg683SerfsTer21 | |
| XM_011535820.2:c.2049_2050del | XP_011534122.1:p.Arg683SerfsTer21 | |
| XM_017010851.2:c.2055_2056del | XP_016866340.1:p.Arg685SerfsTer21 | |
| XM_017010852.1:c.180_181del | XP_016866341.1:p.Arg60SerfsTer21 | |
| XM_017010853.1:c.2049_2050del | XP_016866342.1:p.Arg683SerfsTer21 | |
| NM_000426.4:c.2049_2050del MANE Select | NP_000417.3:p.Arg683SerfsTer21 | |
| NM_001079823.2:c.2049_2050del | NP_001073291.2:p.Arg683SerfsTer21 |