HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173086_173091dup , CM000678.2:g.173086_173091dup | GRCh38 |
NC_000016.9:g.223085_223090dup , CM000678.1:g.223085_223090dup | GRCh37 |
NC_000016.8:g.163085_163090dup | NCBI36 |
NG_000006.1:g.33949_33954dup | |
NG_059186.1:g.1436_1441dup | |
NG_059271.1:g.5240_5245dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.96-39_96-34dup MANE Select | ENSP00000251595.6:n.96-39_96-34dup | |
ENST00000251595.10:c.96-39_96-34dup | ENSP00000251595.6:n.96-39_96-34dup | |
ENST00000397806.1:c.-1-39_-1-34dup | ENSP00000380908.1:n.-1-39_-1-34dup | |
ENST00000482565.1:n.193_198dup | ||
ENST00000484216.1:n.65-39_65-34dup | ||
NM_000517.4:c.96-39_96-34dup | NP_000508.1:n.96-39_96-34dup | |
NM_000517.6:c.96-39_96-34dup MANE Select | NP_000508.1:n.96-39_96-34dup |