HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55091712_55091713del , CM000666.2:g.55091712_55091713del | GRCh38 |
NC_000004.11:g.55957879_55957880del , CM000666.1:g.55957879_55957880del | GRCh37 |
NC_000004.10:g.55652636_55652637del | NCBI36 |
NG_012004.1:g.38883_38884del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.3069+904_3069+905del MANE Select | ENSP00000263923.4:n.3069+904_3069+905del | |
ENST00000647068.1:n.3082+904_3082+905del | ||
ENST00000263923.4:c.3069+904_3069+905del | ENSP00000263923.4:n.3069+904_3069+905del | |
NM_002253.2:c.3069+904_3069+905del | NP_002244.1:n.3069+904_3069+905del | |
NM_002253.3:c.3069+904_3069+905del | NP_002244.1:n.3069+904_3069+905del | |
NM_002253.4:c.3069+904_3069+905del MANE Select | NP_002244.1:n.3069+904_3069+905del |