Linked Data
gnomAD v4:
5-140114155-GGCGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114161_140114165del , CM000667.2:g.140114161_140114165del | GRCh38 |
| NC_000005.9:g.139493746_139493750del , CM000667.1:g.139493746_139493750del | GRCh37 |
| NC_000005.8:g.139473930_139473934del | NCBI36 |
| NG_041813.1:g.5039_5043del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.-21_-17del MANE Select | ENSP00000332706.3:n.-21_-17del | |
| ENST00000505703.2:c.-21_-17del | ENSP00000498560.1:n.-21_-17del | |
| ENST00000651386.1:c.-21_-17del | ENSP00000499133.1:n.-21_-17del | |
| ENST00000331327.4:c.-21_-17del | ENSP00000332706.3:n.-21_-17del | |
| ENST00000502351.1:n.403_407del | ||
| ENST00000505703.1:n.445_449del | ||
| NM_005859.4:c.-21_-17del | NP_005850.1:n.-21_-17del | |
| NM_005859.5:c.-21_-17del MANE Select | NP_005850.1:n.-21_-17del |