Linked Data
dbSNP Id:
rs762843055
ExAC:
11:44129259 CATT / C
gnomAD v2:
11-44129259-CATT-C
gnomAD v3:
11-44107709-CATT-C
gnomAD v4:
11-44107709-CATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44107712_44107714del , CM000673.2:g.44107712_44107714del | GRCh38 |
| NC_000011.9:g.44129262_44129264del , CM000673.1:g.44129262_44129264del | GRCh37 |
| NC_000011.8:g.44085838_44085840del | NCBI36 |
| NG_007560.1:g.17164_17166del , LRG_494:g.17164_17166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.-1_2del | ENSP00000342656.3:n.-1_2del | |
| ENST00000395673.8:c.-1_2del | ENSP00000379032.4:n.-1_2del | |
| ENST00000531161.6:n.159_161del | ||
| ENST00000682359.1:c.-1_2del | ENSP00000508226.1:n.-1_2del | |
| ENST00000682711.1:c.-544+11860_-544+11862del | ENSP00000506803.1:n.-544+11860_-544+11862del | |
| ENST00000682815.1:c.-1_2del | ENSP00000507234.1:n.-1_2del | |
| ENST00000682947.1:n.174_176del | ||
| ENST00000682993.1:c.-1_2del | ENSP00000507580.1:n.-1_2del | |
| ENST00000683000.1:c.-1_2del | ENSP00000508361.1:n.-1_2del | |
| ENST00000683299.1:n.417_419del | ||
| ENST00000683870.1:c.-1_2del | ENSP00000507922.1:n.-1_2del | |
| ENST00000683881.1:n.2561_2563del | ||
| ENST00000684039.1:c.-1_2del | ENSP00000507677.1:n.-1_2del | |
| ENST00000684124.1:c.-1_2del | ENSP00000508332.1:n.-1_2del | |
| ENST00000684533.1:c.-1_2del | ENSP00000507915.1:n.-1_2del | |
| ENST00000533608.7:c.-1_2del MANE Select | ENSP00000431173.2:n.-1_2del | |
| ENST00000343631.3:c.-1_2del | ENSP00000342656.3:n.-1_2del | |
| ENST00000358681.8:c.-1_2del | ENSP00000351509.4:n.-1_2del | |
| ENST00000395673.7:c.99_101del | ENSP00000379032.3:p.Ile33del | |
| ENST00000527014.1:c.-1_2del | ENSP00000434716.1:n.-1_2del | |
| ENST00000532479.1:c.-1_2del | ENSP00000433827.1:n.-1_2del | |
| ENST00000533608.5:c.-1_2del | ENSP00000431173.1:n.-1_2del | |
| NM_000401.3:c.99_101del , LRG_494t1:c.99_101del | NP_000392.3:p.Ile33del | |
| NM_001178083.1:c.-1_2del | NP_001171554.1:n.-1_2del | |
| NM_207122.1:c.-1_2del , LRG_494t2:c.-1_2del | NP_997005.1:n.-1_2del | |
| XM_011519950.1:c.138_140del | XP_011518252.1:p.Ile46del | |
| XM_011519951.1:c.39_41del | XP_011518253.1:p.Ile13del | |
| XM_024448383.1:c.138_140del | XP_024304151.1:p.Ile46del | |
| NM_001178083.2:c.-1_2del | NP_001171554.1:n.-1_2del | |
| NM_207122.2:c.-1_2del MANE Select | NP_997005.1:n.-1_2del | |
| NM_001178083.3:c.-1_2del | NP_001171554.1:n.-1_2del | |
| NM_001389628.1:c.-1_2del | NP_001376557.1:n.-1_2del | |
| NM_001389630.1:c.-1_2del | NP_001376559.1:n.-1_2del |