HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6031676_6031677del , CM000674.2:g.6031676_6031677del | GRCh38 |
NC_000012.11:g.6140842_6140843del , CM000674.1:g.6140842_6140843del | GRCh37 |
NC_000012.10:g.6011103_6011104del | NCBI36 |
NG_009072.1:g.97996_97997del | |
NG_009072.2:g.97996_97997del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.2686-97_2686-96del MANE Select | ENSP00000261405.5:n.2686-97_2686-96del | |
ENST00000261405.9:c.2686-97_2686-96del | ENSP00000261405.5:n.2686-97_2686-96del | |
ENST00000538635.5:n.421-37741_421-37740del | ||
NM_000552.3:c.2686-97_2686-96del | NP_000543.2:n.2686-97_2686-96del | |
NM_000552.4:c.2686-97_2686-96del | NP_000543.2:n.2686-97_2686-96del | |
NM_000552.5:c.2686-97_2686-96del MANE Select | NP_000543.3:n.2686-97_2686-96del |