HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24306051_24306052del , CM000668.2:g.24306051_24306052del | GRCh38 |
NC_000006.11:g.24306279_24306280del , CM000668.1:g.24306279_24306280del | GRCh37 |
NC_000006.10:g.24414258_24414259del | NCBI36 |
NG_012829.1:g.57003_57004del | |
NG_012829.2:g.82243_82244del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.349-4006_349-4005del MANE Select | ENSP00000367715.3:n.349-4006_349-4005del | |
ENST00000378454.7:c.349-4006_349-4005del | ENSP00000367715.3:n.349-4006_349-4005del | |
NM_001195610.1:c.349-4006_349-4005del | NP_001182539.1:n.349-4006_349-4005del | |
NM_016356.4:c.349-4006_349-4005del | NP_057440.2:n.349-4006_349-4005del | |
NM_016356.5:c.349-4006_349-4005del MANE Select | NP_057440.2:n.349-4006_349-4005del | |
NM_001195610.2:c.349-4006_349-4005del | NP_001182539.1:n.349-4006_349-4005del |