HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134356234_134356235del , CM000671.2:g.134356234_134356235del | GRCh38 |
NC_000009.11:g.137248080_137248081del , CM000671.1:g.137248080_137248081del | GRCh37 |
NC_000009.10:g.136387901_136387902del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000481739.2:c.28+29575_28+29576del MANE Select | ENSP00000419692.1:n.28+29575_28+29576del | |
ENST00000481739.1:c.28+29575_28+29576del | ENSP00000419692.1:n.28+29575_28+29576del | |
ENST00000484822.1:n.452+36750_452+36751del | ||
NM_002957.5:c.28+29575_28+29576del | NP_002948.1:n.28+29575_28+29576del | |
NM_002957.6:c.28+29575_28+29576del MANE Select | NP_002948.1:n.28+29575_28+29576del |