HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861370_31861377dup , CM000668.2:g.31861370_31861377dup | GRCh38 |
NC_000006.11:g.31829147_31829154dup , CM000668.1:g.31829147_31829154dup | GRCh37 |
NC_000006.10:g.31937126_31937133dup | NCBI36 |
NG_008201.1:g.6557_6564dup | |
NG_023058.1:g.22671_22678dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.427_434dup MANE Select | ENSP00000364782.4:p.Asp145GlufsTer2 | |
ENST00000677054.1:n.1104_1111dup | ||
ENST00000677512.1:n.535_542dup | ||
ENST00000678869.1:n.535_542dup | ||
ENST00000375631.4:c.427_434dup | ENSP00000364782.4:p.Asp145GlufsTer2 | |
ENST00000480384.1:n.456_463dup | ||
ENST00000491768.5:c.427_434dup | ENSP00000433127.1:p.Asp145GlufsTer2 | |
ENST00000495807.1:n.995_1002dup | ||
NM_000434.3:c.427_434dup | NP_000425.1:p.Asp145GlufsTer2 | |
NM_000434.4:c.427_434dup MANE Select | NP_000425.1:p.Asp145GlufsTer2 |