HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232543165_232543166del , CM000664.2:g.232543165_232543166del | GRCh38 |
NC_000002.11:g.233407875_233407876del , CM000664.1:g.233407875_233407876del | GRCh37 |
NC_000002.10:g.233116119_233116120del | NCBI36 |
NG_012954.1:g.8439_8440del | |
NG_012954.2:g.8474_8475del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.805+83_805+84del MANE Select | ENSP00000498757.1:n.805+83_805+84del | |
ENST00000389492.3:c.649+83_649+84del | ENSP00000374143.3:n.649+83_649+84del | |
ENST00000389494.7:c.805+83_805+84del | ENSP00000374145.3:n.805+83_805+84del | |
NM_005199.4:c.805+83_805+84del | NP_005190.4:n.805+83_805+84del | |
NM_005199.5:c.805+83_805+84del MANE Select | NP_005190.4:n.805+83_805+84del |