Linked Data
dbSNP Id:
rs775355238
ExAC:
22:19951650 CCTGT / C
gnomAD v2:
22-19951650-CCTGT-C
gnomAD v3:
22-19964127-CCTGT-C
gnomAD v4:
22-19964127-CCTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19964132_19964135del , CM000684.2:g.19964132_19964135del | GRCh38 |
| NC_000022.10:g.19951655_19951658del , CM000684.1:g.19951655_19951658del | GRCh37 |
| NC_000022.9:g.18331655_18331658del | NCBI36 |
| NG_011526.1:g.27393_27396del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.484-36_484-33del MANE Select | ENSP00000354511.6:n.484-36_484-33del | |
| ENST00000428707.2:c.484-36_484-33del | ENSP00000387695.2:n.484-36_484-33del | |
| ENST00000676678.1:c.484-36_484-33del | ENSP00000503719.1:n.484-36_484-33del | |
| ENST00000677397.1:c.334-36_334-33del | ENSP00000503422.1:n.334-36_334-33del | |
| ENST00000677470.1:n.298_301del | ||
| ENST00000677564.1:n.267-36_267-33del | ||
| ENST00000677675.1:n.284-36_284-33del | ||
| ENST00000678240.1:n.332-36_332-33del | ||
| ENST00000678255.1:c.484-36_484-33del | ENSP00000504402.1:n.484-36_484-33del | |
| ENST00000678769.1:c.484-36_484-33del | ENSP00000503289.1:n.484-36_484-33del | |
| ENST00000678868.1:c.484-36_484-33del | ENSP00000503583.1:n.484-36_484-33del | |
| ENST00000678945.1:n.316_319del | ||
| ENST00000207636.9:c.506_509del | ENSP00000207636.5:p.Ser169Ter | |
| ENST00000361682.10:c.484-36_484-33del | ENSP00000354511.6:n.484-36_484-33del | |
| ENST00000403184.5:c.484-36_484-33del | ENSP00000383966.1:n.484-36_484-33del | |
| ENST00000403710.5:c.484-36_484-33del | ENSP00000385917.1:n.484-36_484-33del | |
| ENST00000406520.7:c.484-36_484-33del | ENSP00000385150.3:n.484-36_484-33del | |
| ENST00000407537.5:c.484-36_484-33del | ENSP00000384654.2:n.484-36_484-33del | |
| ENST00000412786.5:c.484-36_484-33del | ENSP00000403958.1:n.484-36_484-33del | |
| ENST00000428707.1:c.62-36_62-33del | ||
| ENST00000449653.5:c.334-36_334-33del | ENSP00000416778.1:n.334-36_334-33del | |
| ENST00000493893.1:n.222-36_222-33del | ||
| NM_000754.3:c.484-36_484-33del | NP_000745.1:n.484-36_484-33del | |
| NM_001135161.1:c.484-36_484-33del | NP_001128633.1:n.484-36_484-33del | |
| NM_001135162.1:c.484-36_484-33del | NP_001128634.1:n.484-36_484-33del | |
| NM_007310.2:c.334-36_334-33del | NP_009294.1:n.334-36_334-33del | |
| XM_011529885.1:c.598-36_598-33del | XP_011528187.1:n.598-36_598-33del | |
| XM_011529886.1:c.598-36_598-33del | XP_011528188.1:n.598-36_598-33del | |
| XM_011529887.1:c.484-36_484-33del | XP_011528189.1:n.484-36_484-33del | |
| XM_011529888.1:c.484-36_484-33del | XP_011528190.1:n.484-36_484-33del | |
| XM_011529889.1:c.484-36_484-33del | XP_011528191.1:n.484-36_484-33del | |
| XM_011529890.1:c.484-36_484-33del | XP_011528192.1:n.484-36_484-33del | |
| XM_011529891.1:c.484-36_484-33del | XP_011528193.1:n.484-36_484-33del | |
| NM_001362828.1:c.484-36_484-33del | NP_001349757.1:n.484-36_484-33del | |
| XM_011529886.2:c.895-36_895-33del | XP_011528188.2:n.895-36_895-33del | |
| XM_017028595.1:c.484-36_484-33del | XP_016884084.1:n.484-36_484-33del | |
| NM_000754.4:c.484-36_484-33del MANE Select | NP_000745.1:n.484-36_484-33del | |
| NM_001135161.2:c.484-36_484-33del | NP_001128633.1:n.484-36_484-33del | |
| NM_001135162.2:c.484-36_484-33del | NP_001128634.1:n.484-36_484-33del | |
| NM_001362828.2:c.484-36_484-33del | NP_001349757.1:n.484-36_484-33del | |
| NM_007310.3:c.334-36_334-33del | NP_009294.1:n.334-36_334-33del |