HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459094_49459096dup , CM000668.2:g.49459094_49459096dup | GRCh38 |
NC_000006.11:g.49426807_49426809dup , CM000668.1:g.49426807_49426809dup | GRCh37 |
NC_000006.10:g.49534766_49534768dup | NCBI36 |
NG_007100.1:g.9045_9047dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.372_374dup MANE Select | ENSP00000274813.3:p.Lys124_Asp125insGlu | |
ENST00000274813.3:c.372_374dup | ENSP00000274813.3:p.Lys124_Asp125insGlu | |
NM_000255.3:c.372_374dup | NP_000246.2:p.Lys124_Asp125insGlu | |
XM_005249143.2:c.372_374dup | XP_005249200.1:p.Lys124_Asp125insGlu | |
XM_005249143.3:c.372_374dup | XP_005249200.1:p.Lys124_Asp125insGlu | |
NM_000255.4:c.372_374dup MANE Select | NP_000246.2:p.Lys124_Asp125insGlu |