HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787511_18787513dup , CM000681.2:g.18787511_18787513dup | GRCh38 |
NC_000019.9:g.18898320_18898322dup , CM000681.1:g.18898320_18898322dup | GRCh37 |
NC_000019.8:g.18759320_18759322dup | NCBI36 |
NG_007070.1:g.8800_8802dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222271.7:c.1120_1122dup MANE Select | ENSP00000222271.2:p.Asp374_Ile375insAsp | |
ENST00000222271.6:c.1120_1122dup | ENSP00000222271.2:p.Asp374_Ile375insAsp | |
ENST00000425807.1:c.961_963dup | ENSP00000403792.1:p.Asp321_Ile322insAsp | |
ENST00000542601.6:c.1021_1023dup | ENSP00000439156.2:p.Asp341_Ile342insAsp | |
NM_000095.2:c.1120_1122dup | NP_000086.2:p.Asp374_Ile375insAsp | |
NM_000095.3:c.1120_1122dup MANE Select | NP_000086.2:p.Asp374_Ile375insAsp |