HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21543349_21543367delinsTCGAGGAGGAGGAGGAGAA , CM000669.2:g.21543349_21543367delinsTCGAGGAGGAGGAGGAGAA | GRCh38 |
NC_000007.13:g.21582967_21582985delinsTCGAGGAGGAGGAGGAGAA , CM000669.1:g.21582967_21582985delinsTCGAGGAGGAGGAGGAGAA | GRCh37 |
NC_000007.12:g.21549492_21549510delinsTCGAGGAGGAGGAGGAGAA | NCBI36 |
NG_012886.2:g.5135_5153delinsTCGAGGAGGAGGAGGAGAA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.104_122delinsTCGAGGAGGAGGAGGAGAA MANE Select | ENSP00000475939.1:p.Leu35= | |
ENST00000328843.10:c.104_122delinsTCGAGGAGGAGGAGGAGAA | ENSP00000330671.7:p.Leu35= | |
ENST00000409508.7:c.104_122delinsTCGAGGAGGAGGAGGAGAA | ENSP00000475939.1:p.Leu35= | |
ENST00000620169.4:c.104_122delinsTCGAGGAGGAGGAGGAGAA | ENSP00000481693.1:p.Leu35= | |
NM_001277115.1:c.104_122delinsTCGAGGAGGAGGAGGAGAA | NP_001264044.1:p.Leu35= | |
NM_001277115.2:c.104_122delinsTCGAGGAGGAGGAGGAGAA MANE Select | NP_001264044.1:p.Leu35= |