Linked Data
gnomAD v4:
5-140114129-AGGCGGCGGGCGGAGCGGCAGGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114138_140114159del , CM000667.2:g.140114138_140114159del | GRCh38 |
| NC_000005.9:g.139493723_139493744del , CM000667.1:g.139493723_139493744del | GRCh37 |
| NC_000005.8:g.139473907_139473928del | NCBI36 |
| NG_041813.1:g.5016_5037del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.-44_-23del MANE Select | ENSP00000332706.3:n.-44_-23del | |
| ENST00000505703.2:c.-44_-23del | ENSP00000498560.1:n.-44_-23del | |
| ENST00000651386.1:c.-44_-23del | ENSP00000499133.1:n.-44_-23del | |
| ENST00000331327.4:c.-44_-23del | ENSP00000332706.3:n.-44_-23del | |
| ENST00000502351.1:n.380_401del | ||
| ENST00000505703.1:n.422_443del | ||
| NM_005859.4:c.-44_-23del | NP_005850.1:n.-44_-23del | |
| NM_005859.5:c.-44_-23del MANE Select | NP_005850.1:n.-44_-23del |