HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813748_129813751del , CM000671.2:g.129813748_129813751del | GRCh38 |
NC_000009.11:g.132576027_132576030del , CM000671.1:g.132576027_132576030del | GRCh37 |
NC_000009.10:g.131615848_131615851del | NCBI36 |
NG_008049.1:g.15412_15415del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.*221_*224del MANE Select | ENSP00000345719.4:n.*221_*224del | |
ENST00000651202.1:c.*488_*491del | ENSP00000498222.1:n.*488_*491del | |
ENST00000351698.4:c.*221_*224del | ENSP00000345719.4:n.*221_*224del | |
ENST00000474192.1:n.804_807del | ||
NM_000113.2:c.*221_*224del | NP_000104.1:n.*221_*224del | |
XR_929731.3:n.1415_1418del | ||
NM_000113.3:c.*221_*224del MANE Select | NP_000104.1:n.*221_*224del |