Linked Data
ClinVar Variation Id:
406091
dbSNP Id:
rs967037646
gnomAD v4:
16-2088436-CTGCCTTCAGATCTGCGAGGAAGCCGCCTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088437_2088465del , CM000678.2:g.2088437_2088465del | GRCh38 |
| NC_000016.9:g.2138438_2138466del , CM000678.1:g.2138438_2138466del | GRCh37 |
| NC_000016.8:g.2078439_2078467del | NCBI36 |
| NG_005895.1:g.44132_44160del , LRG_487:g.44132_44160del | |
| NG_008617.1:g.54756_54784del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3609-9_*3628del | ||
| ENST00000642206.2:c.5107-9_5126del | ||
| ENST00000642365.2:c.5257-9_5276del | ||
| ENST00000644417.2:c.*5773-9_*5792del | ||
| ENST00000646464.2:c.*8009-9_*8028del | ||
| ENST00000219476.9:c.5260-9_5279del | ||
| ENST00000350773.9:c.5191-9_5210del | ||
| ENST00000401874.7:c.5059-9_5078del | ||
| ENST00000568454.6:c.5092-9_5111del | ||
| ENST00000569110.2:c.1483-9_1502del | ||
| ENST00000569930.2:n.3142-9_3161del | ||
| ENST00000642365.1:c.3914-9_3933del | ||
| ENST00000642561.1:c.5119-9_5138del | ||
| ENST00000642791.1:n.857-9_876del | ||
| ENST00000642797.1:c.5062-9_5081del | ||
| ENST00000642936.1:c.5128-9_5147del | ||
| ENST00000643088.1:c.5053-9_5072del | ||
| ENST00000643426.1:n.2908-9_2927del | ||
| ENST00000643946.1:c.5185-9_5204del | ||
| ENST00000644043.1:c.5131-9_5150del | ||
| ENST00000644329.1:c.5146-9_5165del | ||
| ENST00000644335.1:c.5056-9_5075del | ||
| ENST00000644399.1:c.5181-9_5200del | ||
| ENST00000645024.1:n.3344-9_3363del | ||
| ENST00000646388.1:c.5254-9_5273del | ||
| ENST00000646634.1:n.4075-9_4094del | ||
| ENST00000646674.1:n.2512-9_2531del | ||
| ENST00000647042.1:n.2483-9_2502del | ||
| ENST00000647180.1:n.2373-9_2392del | ||
| ENST00000219476.7:c.5260-9_5279del | ||
| ENST00000350773.8:c.5191-9_5210del | ||
| ENST00000382538.10:c.4915-9_4934del | ||
| ENST00000401874.6:c.5059-9_5078del | ||
| ENST00000439117.6:c.*4427-9_*4446del | ||
| ENST00000439673.6:c.4951-9_4970del | ||
| ENST00000497886.5:n.2983-9_3002del | ||
| ENST00000568454.5:c.5092-9_5111del | ||
| ENST00000569110.1:c.1442-9_1461del | ||
| ENST00000569930.1:n.2375-9_2394del | ||
| NM_000548.3:c.5260-9_5279del , LRG_487t1:c.5260-9_5279del | ||
| NM_001077183.1:c.5059-9_5078del | ||
| NM_001114382.1:c.5191-9_5210del | ||
| XM_005255529.3:c.5131-9_5150del | ||
| XM_005255531.3:c.5062-9_5081del | ||
| XM_011522636.1:c.5314-9_5333del | ||
| XM_011522637.1:c.5311-9_5330del | ||
| XM_011522638.1:c.5203-9_5222del | ||
| XM_011522639.1:c.5185-9_5204del | ||
| XM_011522640.1:c.5182-9_5201del | ||
| XM_011522641.1:c.4951-9_4970del | ||
| NM_000548.4:c.5260-9_5279del | ||
| NM_001077183.2:c.5059-9_5078del | ||
| NM_001114382.2:c.5191-9_5210del | ||
| NM_001318827.1:c.4951-9_4970del | ||
| NM_001318829.1:c.4915-9_4934del | ||
| NM_001318831.1:c.4528-9_4547del | ||
| NM_001318832.1:c.5092-9_5111del | ||
| NM_001363528.1:c.5062-9_5081del | ||
| NM_021055.2:c.5131-9_5150del | ||
| XM_005255531.4:c.5062-9_5081del | ||
| XM_011522636.2:c.5314-9_5333del | ||
| XM_011522637.2:c.5311-9_5330del | ||
| XM_011522638.2:c.5476-9_5495del | ||
| XM_011522639.2:c.5185-9_5204del | ||
| XM_011522640.2:c.5182-9_5201del | ||
| XM_017023615.1:c.5257-9_5276del | ||
| XM_017023616.1:c.5128-9_5147del | ||
| XM_017023617.1:c.5224-9_5243del | ||
| XM_017023618.1:c.3970-9_3989del | ||
| XM_024450413.1:c.5146-9_5165del | ||
| NM_000548.5:c.5260-9_5279del | ||
| NM_001370404.1:c.5128-9_5147del | ||
| NM_001370405.1:c.5119-9_5138del | ||
| NM_001077183.3:c.5059-9_5078del | ||
| NM_001114382.3:c.5191-9_5210del | ||
| NM_001318827.2:c.4951-9_4970del | ||
| NM_001318829.2:c.4915-9_4934del | ||
| NM_001318831.2:c.4528-9_4547del | ||
| NM_001318832.2:c.5092-9_5111del | ||
| NM_001363528.2:c.5062-9_5081del | ||
| NM_021055.3:c.5131-9_5150del |