HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2275063_2275095del , CM000681.2:g.2275063_2275095del | GRCh38 |
NC_000019.9:g.2275062_2275094del , CM000681.1:g.2275062_2275094del | GRCh37 |
NC_000019.8:g.2226062_2226094del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000342063.5:c.*592_*624del MANE Select | ENSP00000345102.3:n.*592_*624del | |
ENST00000342063.4:c.*592_*624del | ENSP00000345102.3:n.*592_*624del | |
ENST00000621615.1:c.146+5319_146+5351del | ENSP00000481965.1:n.146+5319_146+5351del | |
NM_198532.2:c.*592_*624del | NP_940934.1:n.*592_*624del | |
NM_198532.3:c.*592_*624del MANE Select | NP_940934.1:n.*592_*624del |