Linked Data
dbSNP Id:
rs587776424
ExAC:
16:23614911 GAAGT / G
gnomAD v2:
16-23614911-GAAGT-G
gnomAD v4:
16-23603590-GAAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603595_23603598del , CM000678.2:g.23603595_23603598del | GRCh38 |
| NC_000016.9:g.23614916_23614919del , CM000678.1:g.23614916_23614919del | GRCh37 |
| NC_000016.8:g.23522417_23522420del | NCBI36 |
| NG_007406.1:g.42764_42767del , LRG_308:g.42764_42767del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3432_3435del | ENSP00000460666.3:p.Leu1144PhefsTer20 | |
| ENST00000565038.2:c.*911_*914del | ENSP00000459882.2:n.*911_*914del | |
| ENST00000566069.6:c.*61_*64del | ENSP00000459237.2:n.*61_*64del | |
| ENST00000697377.2:c.3270_3273del | ENSP00000513286.2:p.Leu1090PhefsTer20 | |
| ENST00000697379.2:c.3432_3435del | ENSP00000513287.2:p.Leu1144PhefsTer20 | |
| ENST00000561514.2:c.2541_2544del | ENSP00000460666.2:p.Leu847PhefsTer20 | |
| ENST00000697374.1:c.2541_2544del | ENSP00000513284.1:p.Leu847PhefsTer20 | |
| ENST00000697375.1:n.4773_4776del | ||
| ENST00000697376.1:c.*61_*64del | ENSP00000513285.1:n.*61_*64del | |
| ENST00000697377.1:c.2379_2382del | ENSP00000513286.1:p.Leu793PhefsTer20 | |
| ENST00000697378.1:n.3946_3949del | ||
| ENST00000697379.1:c.2541_2544del | ENSP00000513287.1:p.Leu847PhefsTer20 | |
| ENST00000697380.1:n.2630_2633del | ||
| ENST00000697381.1:n.2121_2124del | ||
| ENST00000697382.1:c.*203_*206del | ENSP00000513288.1:n.*203_*206del | |
| ENST00000697383.1:c.960_963del | ENSP00000513289.1:p.Leu320PhefsTer20 | |
| ENST00000261584.9:c.3426_3429del MANE Select | ENSP00000261584.4:p.Leu1142PhefsTer20 | |
| ENST00000261584.8:c.3426_3429del | ENSP00000261584.4:p.Leu1142PhefsTer20 | |
| ENST00000566069.5:c.192_195del | ||
| ENST00000568219.5:c.2541_2544del | ENSP00000454703.2:p.Leu847PhefsTer20 | |
| NM_024675.3:c.3426_3429del , LRG_308t1:c.3426_3429del | NP_078951.2:p.Leu1142PhefsTer20 | |
| XM_011545946.1:c.3432_3435del | XP_011544248.1:p.Leu1144PhefsTer20 | |
| XM_011545947.1:c.*61_*64del | XP_011544249.1:n.*61_*64del | |
| XM_011545948.1:c.2541_2544del | XP_011544250.1:p.Leu847PhefsTer20 | |
| XR_950851.1:n.4134_4137del | ||
| XM_011545946.2:c.3432_3435del | XP_011544248.1:p.Leu1144PhefsTer20 | |
| XM_011545947.2:c.*61_*64del | XP_011544249.1:n.*61_*64del | |
| XM_011545948.2:c.2541_2544del | XP_011544250.1:p.Leu847PhefsTer20 | |
| XM_017023671.1:c.3195_3198del | XP_016879160.1:p.Leu1065PhefsTer20 | |
| XM_017023672.2:c.3189_3192del | XP_016879161.1:p.Leu1063PhefsTer20 | |
| XM_017023673.2:c.*61_*64del | XP_016879162.1:n.*61_*64del | |
| NM_024675.4:c.3426_3429del MANE Select | NP_078951.2:p.Leu1142PhefsTer20 |