Linked Data
gnomAD v4:
5-135028549-CTTTTTTTTTTTTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028559_135028573del , CM000667.2:g.135028559_135028573del | GRCh38 |
| NC_000005.9:g.134364249_134364263del , CM000667.1:g.134364249_134364263del | GRCh37 |
| NC_000005.8:g.134392148_134392162del | NCBI36 |
| NG_012114.1:g.10711_10725del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*215_*229del MANE Select | ENSP00000265340.6:n.*215_*229del | |
| ENST00000265340.11:c.*215_*229del | ENSP00000265340.6:n.*215_*229del | |
| NM_002653.4:c.*215_*229del | NP_002644.4:n.*215_*229del | |
| NM_002653.5:c.*215_*229del MANE Select | NP_002644.4:n.*215_*229del |