HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988972_94988973dup , CM000672.2:g.94988972_94988973dup | GRCh38 |
NC_000010.10:g.96748729_96748730dup , CM000672.1:g.96748729_96748730dup | GRCh37 |
NC_000010.9:g.96738719_96738720dup | NCBI36 |
NG_008385.1:g.55315_55316dup | |
NG_008385.2:g.55815_55816dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1417_1418dup MANE Select | ENSP00000260682.6:p.Asn474SerfsTer? | |
ENST00000643112.1:c.*426_*427dup | ENSP00000496202.1:n.*426_*427dup | |
ENST00000260682.6:c.1417_1418dup | ENSP00000260682.6:p.Asn474SerfsTer? | |
NM_000771.3:c.1417_1418dup | NP_000762.2:p.Asn474SerfsTer? | |
NM_000771.4:c.1417_1418dup MANE Select | NP_000762.2:p.Asn474SerfsTer? |