HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6023524_6023532del , CM000674.2:g.6023524_6023532del | GRCh38 |
NC_000012.11:g.6132690_6132698del , CM000674.1:g.6132690_6132698del | GRCh37 |
NC_000012.10:g.6002951_6002959del | NCBI36 |
NG_009072.1:g.106143_106151del | |
NG_009072.2:g.106143_106151del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261405.10:c.3379+103_3379+111del MANE Select | ENSP00000261405.5:n.3379+103_3379+111del | |
ENST00000261405.9:c.3379+103_3379+111del | ENSP00000261405.5:n.3379+103_3379+111del | |
ENST00000538635.5:n.421-29594_421-29586del | ||
NM_000552.3:c.3379+103_3379+111del | NP_000543.2:n.3379+103_3379+111del | |
NM_000552.4:c.3379+103_3379+111del | NP_000543.2:n.3379+103_3379+111del | |
NM_000552.5:c.3379+103_3379+111del MANE Select | NP_000543.3:n.3379+103_3379+111del |