HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6036071_6036078del , CM000674.2:g.6036071_6036078del | GRCh38 |
NC_000012.11:g.6145237_6145244del , CM000674.1:g.6145237_6145244del | GRCh37 |
NC_000012.10:g.6015498_6015505del | NCBI36 |
NG_009072.1:g.93594_93601del | |
NG_009072.2:g.93594_93601del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.2546+311_2546+318del MANE Select | ENSP00000261405.5:n.2546+311_2546+318del | |
ENST00000261405.9:c.2546+311_2546+318del | ENSP00000261405.5:n.2546+311_2546+318del | |
ENST00000538635.5:n.421-42143_421-42136del | ||
NM_000552.3:c.2546+311_2546+318del | NP_000543.2:n.2546+311_2546+318del | |
NM_000552.4:c.2546+311_2546+318del | NP_000543.2:n.2546+311_2546+318del | |
NM_000552.5:c.2546+311_2546+318del MANE Select | NP_000543.3:n.2546+311_2546+318del |