HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176118971_176118985del , CM000664.2:g.176118971_176118985del | GRCh38 |
NC_000002.11:g.176983699_176983713del , CM000664.1:g.176983699_176983713del | GRCh37 |
NC_000002.10:g.176691945_176691959del | NCBI36 |
NG_008133.2:g.12208_12222del , LRG_246:g.12208_12222del | |
NG_009225.1:g.1287_1301del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.763_777del MANE Select | ENSP00000249501.4:p.Thr255_Asn259del | |
ENST00000249501.4:c.763_777del | ENSP00000249501.4:p.Thr255_Asn259del | |
ENST00000490088.2:n.587_601del | ||
ENST00000549469.1:n.634_648del | ||
NM_002148.3:c.763_777del , LRG_246t1:c.763_777del | NP_002139.2:p.Thr255_Asn259del | |
NM_002148.4:c.763_777del MANE Select | NP_002139.2:p.Thr255_Asn259del |