Linked Data
gnomAD v4:
5-135028572-TTGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028574_135028577del , CM000667.2:g.135028574_135028577del | GRCh38 |
| NC_000005.9:g.134364264_134364267del , CM000667.1:g.134364264_134364267del | GRCh37 |
| NC_000005.8:g.134392163_134392166del | NCBI36 |
| NG_012114.1:g.10699_10702del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*203_*206del MANE Select | ENSP00000265340.6:n.*203_*206del | |
| ENST00000265340.11:c.*203_*206del | ENSP00000265340.6:n.*203_*206del | |
| ENST00000506438.5:c.*203_*206del | ENSP00000427542.1:n.*203_*206del | |
| NM_002653.4:c.*203_*206del | NP_002644.4:n.*203_*206del | |
| NM_002653.5:c.*203_*206del MANE Select | NP_002644.4:n.*203_*206del |