Linked Data
dbSNP Id:
rs1205208215
gnomAD v2:
6-29910318-CCAGACGCCGAG-C
gnomAD v3:
6-29942541-CCAGACGCCGAG-C
gnomAD v4:
6-29942541-CCAGACGCCGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29942542_29942552del , CM000668.2:g.29942542_29942552del | GRCh38 |
| NC_000006.11:g.29910319_29910329del , CM000668.1:g.29910319_29910329del | GRCh37 |
| NC_000006.10:g.30018298_30018308del | NCBI36 |
| NG_029217.2:g.5077_5087del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706892.1:n.265_275del | ||
| ENST00000706893.1:c.-12_-2del | ENSP00000516609.1:n.-12_-2del | |
| ENST00000706894.1:c.-12_-2del | ENSP00000516610.1:n.-12_-2del | |
| ENST00000706895.1:n.265_275del | ||
| ENST00000706896.1:n.265_275del | ||
| ENST00000706897.1:n.265_275del | ||
| ENST00000706898.1:c.-12_-2del | ENSP00000516611.1:n.-12_-2del | |
| ENST00000706899.1:n.265_275del | ||
| ENST00000706901.1:c.-12_-2del | ENSP00000516612.1:n.-12_-2del | |
| ENST00000706902.1:c.-12_-2del | ENSP00000516613.1:n.-12_-2del | |
| ENST00000706903.1:c.-12_-2del | ENSP00000516614.1:n.-12_-2del | |
| ENST00000706904.1:c.-12_-2del | ENSP00000516615.1:n.-12_-2del | |
| ENST00000706905.1:c.-12_-2del | ENSP00000516616.1:n.-12_-2del | |
| ENST00000376809.10:c.-12_-2del MANE Select | ENSP00000366005.5:n.-12_-2del | |
| ENST00000376806.9:c.-12_-2del | ENSP00000366002.5:n.-12_-2del | |
| ENST00000376809.9:c.-12_-2del | ENSP00000366005.5:n.-12_-2del | |
| ENST00000396634.5:c.-12_-2del | ENSP00000379873.1:n.-12_-2del | |
| ENST00000429656.1:n.516_526del | ||
| NM_002116.7:c.-12_-2del | NP_002107.3:n.-12_-2del | |
| NM_002116.8:c.-12_-2del MANE Select | NP_002107.3:n.-12_-2del |