HGVS | Genome Assembly |
---|---|
NC_000004.12:g.41745995_41745996insTGC , CM000666.2:g.41745995_41745996insTGC | GRCh38 |
NC_000004.11:g.41748012_41748013insTGC , CM000666.1:g.41748012_41748013insTGC | GRCh37 |
NC_000004.10:g.41442769_41442770insTGC | NCBI36 |
NG_008243.1:g.7977_7978insAGC , LRG_513:g.7977_7978insAGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226382.4:c.758_759insAGC MANE Select | ENSP00000226382.2:p.Ala253_Ala254insAla | |
ENST00000226382.3:c.758_759insAGC | ENSP00000226382.2:p.Ala253_Ala254insAla | |
NM_003924.3:c.758_759insAGC , LRG_513t1:c.758_759insAGC | NP_003915.2:p.Ala253_Ala254insAla | |
NM_003924.4:c.758_759insAGC MANE Select | NP_003915.2:p.Ala253_Ala254insAla |