HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135031010_135031019del , CM000667.2:g.135031010_135031019del | GRCh38 |
NC_000005.9:g.134366700_134366709del , CM000667.1:g.134366700_134366709del | GRCh37 |
NC_000005.8:g.134394599_134394608del | NCBI36 |
NG_012114.1:g.8256_8265del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.402+257_402+266del MANE Select | ENSP00000265340.6:n.402+257_402+266del | |
ENST00000265340.11:c.402+257_402+266del | ENSP00000265340.6:n.402+257_402+266del | |
ENST00000503586.1:c.524+257_524+266del | ||
ENST00000504936.1:n.735+257_735+266del | ||
ENST00000506438.5:c.402+257_402+266del | ENSP00000427542.1:n.402+257_402+266del | |
NM_002653.4:c.402+257_402+266del | NP_002644.4:n.402+257_402+266del | |
NM_002653.5:c.402+257_402+266del MANE Select | NP_002644.4:n.402+257_402+266del |