Linked Data
gnomAD v4:
5-135028548-GCTTTTTTTTTTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028549_135028561del , CM000667.2:g.135028549_135028561del | GRCh38 |
| NC_000005.9:g.134364239_134364251del , CM000667.1:g.134364239_134364251del | GRCh37 |
| NC_000005.8:g.134392138_134392150del | NCBI36 |
| NG_012114.1:g.10714_10726del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*218_*230del MANE Select | ENSP00000265340.6:n.*218_*230del | |
| ENST00000265340.11:c.*218_*230del | ENSP00000265340.6:n.*218_*230del | |
| NM_002653.4:c.*218_*230del | NP_002644.4:n.*218_*230del | |
| NM_002653.5:c.*218_*230del MANE Select | NP_002644.4:n.*218_*230del |