Linked Data
ClinVar Variation Id:
1042489
dbSNP Id:
rs759520580
gnomAD v2:
16-2138320-CCAGCGGGTAGGGAATATGGGGCTCCCT-C
gnomAD v4:
16-2088319-CCAGCGGGTAGGGAATATGGGGCTCCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088327_2088353del , CM000678.2:g.2088327_2088353del | GRCh38 |
| NC_000016.9:g.2138328_2138354del , CM000678.1:g.2138328_2138354del | GRCh37 |
| NC_000016.8:g.2078329_2078355del | NCBI36 |
| NG_005895.1:g.44022_44048del , LRG_487:g.44022_44048del | |
| NG_008617.1:g.54875_54901del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3608+2_*3608+28del | ||
| ENST00000642206.2:c.5106+2_5106+28del | ||
| ENST00000642365.2:c.5256+2_5256+28del | ||
| ENST00000644417.2:c.*5772+2_*5772+28del | ||
| ENST00000646464.2:c.*8008+2_*8008+28del | ||
| ENST00000219476.9:c.5259+2_5259+28del | ||
| ENST00000350773.9:c.5190+2_5190+28del | ||
| ENST00000401874.7:c.5058+2_5058+28del | ||
| ENST00000568454.6:c.5091+2_5091+28del | ||
| ENST00000569110.2:c.1482+2_1482+28del | ||
| ENST00000569930.2:n.3141+2_3141+28del | ||
| ENST00000642365.1:c.3913+2_3913+28del | ||
| ENST00000642561.1:c.5118+2_5118+28del | ||
| ENST00000642791.1:n.856+2_856+28del | ||
| ENST00000642797.1:c.5061+2_5061+28del | ||
| ENST00000642936.1:c.5127+2_5127+28del | ||
| ENST00000643088.1:c.5052+2_5052+28del | ||
| ENST00000643426.1:n.2907+2_2907+28del | ||
| ENST00000643946.1:c.5184+2_5184+28del | ||
| ENST00000644043.1:c.5130+2_5130+28del | ||
| ENST00000644329.1:c.5145+2_5145+28del | ||
| ENST00000644335.1:c.5055+2_5055+28del | ||
| ENST00000644399.1:c.5180+2_5180+28del | ||
| ENST00000645024.1:n.3343+2_3343+28del | ||
| ENST00000646388.1:c.5253+2_5253+28del | ||
| ENST00000646634.1:n.4074+2_4074+28del | ||
| ENST00000646674.1:n.2511+2_2511+28del | ||
| ENST00000647042.1:n.2482+2_2482+28del | ||
| ENST00000647180.1:n.2372+2_2372+28del | ||
| ENST00000219476.7:c.5259+2_5259+28del | ||
| ENST00000350773.8:c.5190+2_5190+28del | ||
| ENST00000382538.10:c.4914+2_4914+28del | ||
| ENST00000401874.6:c.5058+2_5058+28del | ||
| ENST00000439117.6:c.*4426+2_*4426+28del | ||
| ENST00000439673.6:c.4950+2_4950+28del | ||
| ENST00000497886.5:n.2982+2_2982+28del | ||
| ENST00000568454.5:c.5091+2_5091+28del | ||
| ENST00000569110.1:c.1441+2_1441+28del | ||
| ENST00000569930.1:n.2374+2_2374+28del | ||
| NM_000548.3:c.5259+2_5259+28del , LRG_487t1:c.5259+2_5259+28del | ||
| NM_001077183.1:c.5058+2_5058+28del | ||
| NM_001114382.1:c.5190+2_5190+28del | ||
| XM_005255529.3:c.5130+2_5130+28del | ||
| XM_005255531.3:c.5061+2_5061+28del | ||
| XM_011522636.1:c.5313+2_5313+28del | ||
| XM_011522637.1:c.5310+2_5310+28del | ||
| XM_011522638.1:c.5202+2_5202+28del | ||
| XM_011522639.1:c.5184+2_5184+28del | ||
| XM_011522640.1:c.5181+2_5181+28del | ||
| XM_011522641.1:c.4950+2_4950+28del | ||
| NM_000548.4:c.5259+2_5259+28del | ||
| NM_001077183.2:c.5058+2_5058+28del | ||
| NM_001114382.2:c.5190+2_5190+28del | ||
| NM_001318827.1:c.4950+2_4950+28del | ||
| NM_001318829.1:c.4914+2_4914+28del | ||
| NM_001318831.1:c.4527+2_4527+28del | ||
| NM_001318832.1:c.5091+2_5091+28del | ||
| NM_001363528.1:c.5061+2_5061+28del | ||
| NM_021055.2:c.5130+2_5130+28del | ||
| XM_005255531.4:c.5061+2_5061+28del | ||
| XM_011522636.2:c.5313+2_5313+28del | ||
| XM_011522637.2:c.5310+2_5310+28del | ||
| XM_011522638.2:c.5475+2_5475+28del | ||
| XM_011522639.2:c.5184+2_5184+28del | ||
| XM_011522640.2:c.5181+2_5181+28del | ||
| XM_017023615.1:c.5256+2_5256+28del | ||
| XM_017023616.1:c.5127+2_5127+28del | ||
| XM_017023617.1:c.5223+2_5223+28del | ||
| XM_017023618.1:c.3969+2_3969+28del | ||
| XM_024450413.1:c.5145+2_5145+28del | ||
| NM_000548.5:c.5259+2_5259+28del | ||
| NM_001370404.1:c.5127+2_5127+28del | ||
| NM_001370405.1:c.5118+2_5118+28del | ||
| NM_001077183.3:c.5058+2_5058+28del | ||
| NM_001114382.3:c.5190+2_5190+28del | ||
| NM_001318827.2:c.4950+2_4950+28del | ||
| NM_001318829.2:c.4914+2_4914+28del | ||
| NM_001318831.2:c.4527+2_4527+28del | ||
| NM_001318832.2:c.5091+2_5091+28del | ||
| NM_001363528.2:c.5061+2_5061+28del | ||
| NM_021055.3:c.5130+2_5130+28del |