HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47004087_47004088delinsGC , CM000681.2:g.47004087_47004088delinsGC | GRCh38 |
NC_000019.9:g.47507344_47507345delinsGC , CM000681.1:g.47507344_47507345delinsGC | GRCh37 |
NC_000019.8:g.52199184_52199185delinsGC | NCBI36 |
NG_047014.1:g.90521_90522delinsGC | |
NG_047014.2:g.148091_148092delinsGC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000404338.8:c.7899_7900delinsGC | ENSP00000385720.2:n.7899_7900delinsGC | |
ENST00000672722.1:c.*3399_*3400delinsGC MANE Select | ENSP00000500409.1:n.*3399_*3400delinsGC | |
ENST00000404338.7:c.7899_7900delinsGC | ENSP00000385720.2:n.7899_7900delinsGC | |
ENST00000614079.1:c.7476_7477delinsGC | ENSP00000483730.1:n.7476_7477delinsGC | |
NM_004491.4:c.7899_7900delinsGC | NP_004482.4:n.7899_7900delinsGC | |
NM_004491.5:c.*3399_*3400delinsGC MANE Select | NP_004482.4:n.*3399_*3400delinsGC |