HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49431825del , CM000668.2:g.49431825del | GRCh38 |
NC_000006.11:g.49399538del , CM000668.1:g.49399538del | GRCh37 |
NC_000006.10:g.49507497del | NCBI36 |
NG_007100.1:g.36316del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.2157del MANE Select | ENSP00000274813.3:p.Asn720MetfsTer? | |
ENST00000274813.3:c.2157del | ENSP00000274813.3:p.Asn720MetfsTer? | |
NM_000255.3:c.2157del | NP_000246.2:p.Asn720MetfsTer? | |
XM_005249143.2:c.2157del | XP_005249200.1:p.Asn720MetfsTer? | |
XM_005249143.3:c.2157del | XP_005249200.1:p.Asn720MetfsTer? | |
NM_000255.4:c.2157del MANE Select | NP_000246.2:p.Asn720MetfsTer? |