HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432102_229432104dup , CM000663.2:g.229432102_229432104dup | GRCh38 |
NC_000001.10:g.229567849_229567851dup , CM000663.1:g.229567849_229567851dup | GRCh37 |
NC_000001.9:g.227634472_227634474dup | NCBI36 |
NG_006672.1:g.7004_7006dup , LRG_429:g.7004_7006dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.709_711dup | ENSP00000355644.4:p.Ser237_Leu238insSer | |
ENST00000684723.1:c.574_576dup | ENSP00000508084.1:p.Ser192_Leu193insSer | |
ENST00000366683.3:c.480-231_480-229dup | ENSP00000355644.3:n.480-231_480-229dup | |
ENST00000366684.7:c.709_711dup MANE Select | ENSP00000355645.3:p.Ser237_Leu238insSer | |
NM_001100.3:c.709_711dup , LRG_429t1:c.709_711dup | NP_001091.1:p.Ser237_Leu238insSer | |
NM_001100.4:c.709_711dup MANE Select | NP_001091.1:p.Ser237_Leu238insSer |