ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001367 (NFE)
Genomes Max Group AF
0.00003857 (NFE)
Exomes Max Group AF
0.00000982 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89459671_89459672del , CM000674.2:g.89459671_89459672del | GRCh38 |
| NC_000012.11:g.89853448_89853449del , CM000674.1:g.89853448_89853449del | GRCh37 |
| NC_000012.10:g.88377579_88377580del | NCBI36 |
| NG_041783.1:g.71591_71592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313546.8:c.1079_1080del MANE Select | ENSP00000323302.3:p.Pro360ArgfsTer8 | |
| ENST00000313546.7:c.1079_1080del | ENSP00000323302.3:p.Pro360ArgfsTer8 | |
| ENST00000393179.8:c.689_690del | ENSP00000376877.4:p.Pro230ArgfsTer8 | |
| ENST00000546740.5:n.221+1950_221+1951del | ||
| ENST00000547496.5:c.*777_*778del | ENSP00000447437.1:n.*777_*778del | |
| ENST00000548715.5:c.*327_*328del | ENSP00000449945.1:n.*327_*328del | |
| ENST00000549035.1:c.953_954del | ENSP00000447916.1:p.Pro318ArgfsTer8 | |
| ENST00000549304.5:n.765_766del | ||
| ENST00000549504.1:c.*2+7098_*2+7099del | ENSP00000450118.1:n.*2+7098_*2+7099del | |
| NM_001199777.1:c.953_954del | NP_001186706.1:p.Pro318ArgfsTer8 | |
| NM_172240.2:c.1079_1080del | NP_758440.1:p.Pro360ArgfsTer8 | |
| NR_037659.1:n.1297_1298del | ||
| NR_037660.1:n.1255_1256del | ||
| NM_172240.3:c.1079_1080del MANE Select | NP_758440.1:p.Pro360ArgfsTer8 | |
| NM_001199777.2:c.953_954del | NP_001186706.1:p.Pro318ArgfsTer8 | |
| NR_037659.2:n.1082_1083del | ||
| NR_037660.2:n.1118_1119del |