HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39507362_39507363delinsGC , CM000681.2:g.39507362_39507363delinsGC | GRCh38 |
NC_000019.9:g.39998002_39998003delinsGC , CM000681.1:g.39998002_39998003delinsGC | GRCh37 |
NC_000019.8:g.44689842_44689843delinsGC | NCBI36 |
NG_008256.1:g.13446_13447delinsGC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356433.10:c.1417_1418delinsGC MANE Select | ENSP00000348810.4:p.Ala473= | |
ENST00000205143.4:c.1417_1418delinsGC | ENSP00000205143.3:p.Ala473= | |
ENST00000356433.9:c.1417_1418delinsGC | ENSP00000348810.4:p.Ala473= | |
NM_016941.3:c.1417_1418delinsGC | NP_058637.1:p.Ala473= | |
NM_203486.2:c.1417_1418delinsGC | NP_982353.1:p.Ala473= | |
NM_016941.4:c.1417_1418delinsGC | NP_058637.1:p.Ala473= | |
NM_203486.3:c.1417_1418delinsGC MANE Select | NP_982353.1:p.Ala473= |