HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233271_55233275dup , CM000667.2:g.55233271_55233275dup | GRCh38 |
NC_000005.9:g.54529099_54529103dup , CM000667.1:g.54529099_54529103dup | GRCh37 |
NC_000005.8:g.54564856_54564860dup | NCBI36 |
NG_034201.1:g.5452_5456dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.258_262dup MANE Select | ENSP00000282572.4:p.Gln88ArgfsTer8 | |
ENST00000282572.4:c.258_262dup | ENSP00000282572.4:p.Gln88ArgfsTer8 | |
ENST00000501463.2:c.258_262dup | ENSP00000422485.1:p.Gln88ArgfsTer8 | |
NM_021147.4:c.258_262dup | NP_066970.3:p.Gln88ArgfsTer8 | |
NR_125346.1:n.452_456dup | ||
NR_125347.1:n.452_456dup | ||
NM_021147.5:c.258_262dup MANE Select | NP_066970.3:p.Gln88ArgfsTer8 | |
NR_125346.2:n.343_347dup | ||
NR_125347.2:n.343_347dup |