HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612219_41612222dup , CM000679.2:g.41612219_41612222dup | GRCh38 |
NC_000017.10:g.39768471_39768474dup , CM000679.1:g.39768471_39768474dup | GRCh37 |
NC_000017.9:g.37021997_37022000dup | NCBI36 |
NG_008301.1:g.5606_5609dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301653.9:c.467_470dup MANE Select | ENSP00000301653.3:p.Pro158AlafsTer4 | |
ENST00000301653.8:c.467_470dup | ENSP00000301653.3:p.Pro158AlafsTer4 | |
ENST00000588319.1:n.544_547dup | ||
ENST00000593067.1:c.-248_-245dup | ENSP00000467124.1:n.-248_-245dup | |
NM_005557.3:c.467_470dup | NP_005548.2:p.Pro158AlafsTer4 | |
NM_005557.4:c.467_470dup MANE Select | NP_005548.2:p.Pro158AlafsTer4 |