HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713301del , CM000665.2:g.181713301del | GRCh38 |
NC_000003.11:g.181431089del , CM000665.1:g.181431089del | GRCh37 |
NC_000003.10:g.182913783del | NCBI36 |
NG_009080.1:g.6368del , LRG_719:g.6368del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.941del (SOX2) MANE Select | ENSP00000323588.1:p.Leu314ProfsTer? | |
ENST00000325404.2:c.941del (SOX2) | ENSP00000323588.1:p.Leu314ProfsTer? | |
NM_003106.3:c.941del (SOX2) | NP_003097.1:p.Leu314ProfsTer? | |
NR_004053.3:n.768-1884del (SOX2-OT) | ||
NR_075089.1:n.767+13418del (SOX2-OT) | ||
NR_075090.1:n.482-26268del (SOX2-OT) | ||
NR_075091.1:n.783-1884del (SOX2-OT) | ||
NR_075092.1:n.782+13418del (SOX2-OT) | ||
NR_075093.1:n.473-26268del (SOX2-OT) | ||
NM_003106.4:c.941del (SOX2) MANE Select | NP_003097.1:p.Leu314ProfsTer? |