Linked Data
gnomAD v4:
2-240878775-AGGCCCTGAGGGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878783_240878794del , CM000664.2:g.240878783_240878794del | GRCh38 |
| NC_000002.11:g.241818200_241818211del , CM000664.1:g.241818200_241818211del | GRCh37 |
| NC_000002.10:g.241466873_241466884del | NCBI36 |
| NG_008005.1:g.15039_15050del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1141_1152del MANE Select | ENSP00000302620.3:p.Arg381_Leu384del | |
| ENST00000307503.3:c.1141_1152del | ENSP00000302620.3:p.Arg381_Leu384del | |
| ENST00000470255.1:n.919_930del | ||
| NM_000030.2:c.1141_1152del | NP_000021.1:p.Arg381_Leu384del | |
| NM_000030.3:c.1141_1152del MANE Select | NP_000021.1:p.Arg381_Leu384del |