Linked Data
dbSNP Id:
rs1945520020
gnomAD v3:
11-57614688-GGTGTCC-G
gnomAD v4:
11-57614688-GGTGTCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614690_57614695del , CM000673.2:g.57614690_57614695del | GRCh38 |
| NC_000011.9:g.57382163_57382168del , CM000673.1:g.57382163_57382168del | GRCh37 |
| NC_000011.8:g.57138739_57138744del | NCBI36 |
| NG_009625.1:g.22137_22142del , LRG_105:g.22137_22142del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.*109_*114del MANE Select | ENSP00000278407.4:n.*109_*114del | |
| ENST00000528996.2:c.*509_*514del | ENSP00000431226.2:n.*509_*514del | |
| ENST00000531605.2:c.*1388_*1393del | ENSP00000503752.1:n.*1388_*1393del | |
| ENST00000619430.2:c.*109_*114del | ENSP00000478572.2:n.*109_*114del | |
| ENST00000676670.1:c.*15+94_*15+99del | ENSP00000504807.1:n.*15+94_*15+99del | |
| ENST00000676741.1:n.2694_2699del | ||
| ENST00000677624.1:c.*1032_*1037del | ENSP00000503979.1:n.*1032_*1037del | |
| ENST00000677625.1:c.*109_*114del | ENSP00000502857.1:n.*109_*114del | |
| ENST00000677856.1:n.1865_1870del | ||
| ENST00000677915.1:c.*509_*514del | ENSP00000503118.1:n.*509_*514del | |
| ENST00000678533.1:c.*1072+94_*1072+99del | ENSP00000503873.1:n.*1072+94_*1072+99del | |
| ENST00000678592.1:c.*552_*557del | ENSP00000504424.1:n.*552_*557del | |
| ENST00000278407.8:c.*109_*114del | ENSP00000278407.4:n.*109_*114del | |
| ENST00000340687.10:c.*109_*114del | ENSP00000341861.6:n.*109_*114del | |
| ENST00000378323.8:c.*109_*114del | ENSP00000367574.4:n.*109_*114del | |
| ENST00000378324.6:c.*109_*114del | ENSP00000367575.2:n.*109_*114del | |
| ENST00000403558.1:c.*109_*114del | ENSP00000384420.1:n.*109_*114del | |
| ENST00000528996.1:c.813_818del | ENSP00000431226.1:n.813_818del | |
| ENST00000531797.5:c.*637_*642del | ENSP00000432554.1:n.*637_*642del | |
| NM_000062.2:c.*109_*114del , LRG_105t1:c.*109_*114del | NP_000053.2:n.*109_*114del | |
| NM_001032295.1:c.*109_*114del | NP_001027466.1:n.*109_*114del | |
| NM_000062.3:c.*109_*114del MANE Select | NP_000053.2:n.*109_*114del | |
| NM_001032295.2:c.*109_*114del | NP_001027466.1:n.*109_*114del |