Linked Data
ClinVar Variation Id:
363631
dbSNP Id:
rs574723016
gnomAD v2:
8-72110352-TTAA-T
gnomAD v3:
8-71198117-TTAA-T
gnomAD v4:
8-71198117-TTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71198122_71198124del , CM000670.2:g.71198122_71198124del | GRCh38 |
| NC_000008.10:g.72110357_72110359del , CM000670.1:g.72110357_72110359del | GRCh37 |
| NC_000008.9:g.72272911_72272913del | NCBI36 |
| NG_011735.2:g.169113_169115del | |
| NG_011735.3:g.355011_355013del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340726.8:c.*1220_*1222del MANE Select | ENSP00000342626.3:n.*1220_*1222del | |
| ENST00000419131.6:c.*1220_*1222del | ENSP00000410176.1:n.*1220_*1222del | |
| ENST00000465115.6:c.*2278_*2280del | ENSP00000428391.1:n.*2278_*2280del | |
| ENST00000642391.1:c.*2676_*2678del | ENSP00000496700.1:n.*2676_*2678del | |
| ENST00000643681.1:c.*1220_*1222del | ENSP00000495390.1:n.*1220_*1222del | |
| ENST00000644229.1:c.*1220_*1222del | ENSP00000494568.1:n.*1220_*1222del | |
| ENST00000644424.1:n.2069_2071del | ||
| ENST00000645793.1:c.*1220_*1222del | ENSP00000496255.1:n.*1220_*1222del | |
| ENST00000647540.1:c.*1220_*1222del | ENSP00000494438.1:n.*1220_*1222del | |
| ENST00000303824.11:c.*1220_*1222del | ENSP00000303221.7:n.*1220_*1222del | |
| ENST00000340726.7:c.*1220_*1222del | ENSP00000342626.3:n.*1220_*1222del | |
| ENST00000388740.4:c.*1220_*1222del | ENSP00000373392.3:n.*1220_*1222del | |
| ENST00000388742.8:c.*1220_*1222del | ENSP00000373394.4:n.*1220_*1222del | |
| ENST00000465115.5:c.*2278_*2280del | ENSP00000428391.1:n.*2278_*2280del | |
| NM_000503.5:c.*1220_*1222del | NP_000494.2:n.*1220_*1222del | |
| NM_001288574.1:c.*1220_*1222del | NP_001275503.1:n.*1220_*1222del | |
| NM_001288575.1:c.*1220_*1222del | NP_001275504.1:n.*1220_*1222del | |
| NM_172058.3:c.*1220_*1222del | NP_742055.1:n.*1220_*1222del | |
| NM_172059.3:c.*1220_*1222del | NP_742056.1:n.*1220_*1222del | |
| NM_172060.3:c.*1220_*1222del | NP_742057.1:n.*1220_*1222del | |
| XM_011517481.1:c.*1107_*1109del | XP_011515783.1:n.*1107_*1109del | |
| XM_011517482.1:c.*1107_*1109del | XP_011515784.1:n.*1107_*1109del | |
| XM_011517483.1:c.*1220_*1222del | XP_011515785.1:n.*1220_*1222del | |
| XM_011517484.1:c.*1220_*1222del | XP_011515786.1:n.*1220_*1222del | |
| XM_011517485.1:c.*1107_*1109del | XP_011515787.1:n.*1107_*1109del | |
| XM_011517486.1:c.*1107_*1109del | XP_011515788.1:n.*1107_*1109del | |
| XM_011517487.1:c.*1107_*1109del | XP_011515789.1:n.*1107_*1109del | |
| XM_011517488.1:c.*1107_*1109del | XP_011515790.1:n.*1107_*1109del | |
| XM_011517489.1:c.*1107_*1109del | XP_011515791.1:n.*1107_*1109del | |
| XM_011517490.1:c.*1107_*1109del | XP_011515792.1:n.*1107_*1109del | |
| XM_011517491.1:c.*1107_*1109del | XP_011515793.1:n.*1107_*1109del | |
| XM_011517492.1:c.*1107_*1109del | XP_011515794.1:n.*1107_*1109del | |
| XR_929038.1:n.180-1018_180-1016del | ||
| NM_172059.4:c.*1220_*1222del | NP_742056.2:n.*1220_*1222del | |
| XM_011517483.2:c.*1220_*1222del | XP_011515785.1:n.*1220_*1222del | |
| XM_011517484.3:c.*1220_*1222del | XP_011515786.2:n.*1220_*1222del | |
| XM_017013201.1:c.*1220_*1222del | XP_016868690.1:n.*1220_*1222del | |
| XM_017013202.1:c.*1220_*1222del | XP_016868691.1:n.*1220_*1222del | |
| XM_017013203.2:c.*1220_*1222del | XP_016868692.1:n.*1220_*1222del | |
| XM_017013204.2:c.*1220_*1222del | XP_016868693.1:n.*1220_*1222del | |
| XM_017013206.1:c.*1220_*1222del | XP_016868695.1:n.*1220_*1222del | |
| XM_017013207.2:c.*1220_*1222del | XP_016868696.1:n.*1220_*1222del | |
| XM_017013208.2:c.*1220_*1222del | XP_016868697.1:n.*1220_*1222del | |
| XM_017013210.2:c.*1220_*1222del | XP_016868699.1:n.*1220_*1222del | |
| XM_017013211.2:c.*1220_*1222del | XP_016868700.1:n.*1220_*1222del | |
| XM_017013212.2:c.*1220_*1222del | XP_016868701.1:n.*1220_*1222del | |
| XM_017013213.1:c.*1220_*1222del | XP_016868702.1:n.*1220_*1222del | |
| XR_001745954.1:n.4803-1018_4803-1016del | ||
| NM_000503.6:c.*1220_*1222del MANE Select | NP_000494.2:n.*1220_*1222del | |
| NM_001288574.2:c.*1220_*1222del | NP_001275503.1:n.*1220_*1222del | |
| NM_001288575.2:c.*1220_*1222del | NP_001275504.1:n.*1220_*1222del | |
| NM_001370333.1:c.*1220_*1222del | NP_001357262.1:n.*1220_*1222del | |
| NM_001370334.1:c.*1220_*1222del | NP_001357263.1:n.*1220_*1222del | |
| NM_001370335.1:c.*1220_*1222del | NP_001357264.1:n.*1220_*1222del | |
| NM_001370336.1:c.*1220_*1222del | NP_001357265.1:n.*1220_*1222del | |
| NM_172058.4:c.*1220_*1222del | NP_742055.1:n.*1220_*1222del | |
| NM_172059.5:c.*1220_*1222del | NP_742056.2:n.*1220_*1222del |