Linked Data
gnomAD v4:
5-140114304-CGGCAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114308_140114313del , CM000667.2:g.140114308_140114313del | GRCh38 |
| NC_000005.9:g.139493893_139493898del , CM000667.1:g.139493893_139493898del | GRCh37 |
| NC_000005.8:g.139474077_139474082del | NCBI36 |
| NG_041813.1:g.5186_5191del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.127_132del MANE Select | ENSP00000332706.3:p.Ser43_Gly44del | |
| ENST00000505703.2:c.127_132del | ENSP00000498560.1:p.Ser43_Gly44del | |
| ENST00000651386.1:c.127_132del | ENSP00000499133.1:p.Ser43_Gly44del | |
| ENST00000331327.4:c.127_132del | ENSP00000332706.3:p.Ser43_Gly44del | |
| ENST00000505703.1:n.592_597del | ||
| NM_005859.4:c.127_132del | NP_005850.1:p.Ser43_Gly44del | |
| NM_005859.5:c.127_132del MANE Select | NP_005850.1:p.Ser43_Gly44del |