Linked Data
gnomAD v3:
22-19919183-ACTTTTTAATATTTATTAATTTATTTATTT-A
gnomAD v4:
22-19919183-ACTTTTTAATATTTATTAATTTATTTATTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19919184_19919212del , CM000684.2:g.19919184_19919212del | GRCh38 |
| NC_000022.10:g.19906707_19906735del , CM000684.1:g.19906707_19906735del | GRCh37 |
| NC_000022.9:g.18286707_18286735del | NCBI36 |
| NG_011835.1:g.27625_27653del , LRG_417:g.27625_27653del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.230-208_230-180del MANE Select | ENSP00000383365.1:n.230-208_230-180del | |
| ENST00000334363.14:c.230-208_230-180del | ENSP00000334451.9:n.230-208_230-180del | |
| ENST00000400518.5:c.140-208_140-180del | ENSP00000383362.1:n.140-208_140-180del | |
| ENST00000400519.6:c.227-208_227-180del | ENSP00000383363.1:n.227-208_227-180del | |
| ENST00000400521.6:c.230-208_230-180del | ENSP00000383365.1:n.230-208_230-180del | |
| ENST00000400525.6:c.161-208_161-180del | ENSP00000383369.3:n.161-208_161-180del | |
| ENST00000474308.5:c.173-208_173-180del | ENSP00000485665.1:n.173-208_173-180del | |
| ENST00000491939.6:c.134-208_134-180del | ENSP00000485543.1:n.134-208_134-180del | |
| ENST00000496729.2:n.235-208_235-180del | ||
| ENST00000542719.6:c.-59-208_-59-180del | ENSP00000485128.2:n.-59-208_-59-180del | |
| NM_001282512.1:c.230-208_230-180del | NP_001269441.1:n.230-208_230-180del | |
| NM_006440.4:c.230-208_230-180del | NP_006431.2:n.230-208_230-180del | |
| NM_001282512.2:c.230-208_230-180del | NP_001269441.1:n.230-208_230-180del | |
| NM_001352300.1:c.227-208_227-180del | NP_001339229.1:n.227-208_227-180del | |
| NM_001352301.1:c.140-208_140-180del | NP_001339230.1:n.140-208_140-180del | |
| NM_001352302.1:c.-59-208_-59-180del | NP_001339231.1:n.-59-208_-59-180del | |
| NM_001352303.1:c.134-208_134-180del | NP_001339232.1:n.134-208_134-180del | |
| NR_147957.1:n.362-208_362-180del | ||
| NM_006440.5:c.230-208_230-180del MANE Select | NP_006431.2:n.230-208_230-180del | |
| NM_001282512.3:c.230-208_230-180del | NP_001269441.1:n.230-208_230-180del | |
| NM_001352300.2:c.227-208_227-180del | NP_001339229.1:n.227-208_227-180del | |
| NR_147957.2:n.188-208_188-180del | ||
| NM_001352301.2:c.140-208_140-180del | NP_001339230.1:n.140-208_140-180del | |
| NM_001352302.2:c.-59-208_-59-180del | NP_001339231.1:n.-59-208_-59-180del | |
| NM_001352303.2:c.134-208_134-180del | NP_001339232.1:n.134-208_134-180del |