HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130670_160130699del , CM000663.2:g.160130670_160130699del | GRCh38 |
NC_000001.10:g.160100460_160100489del , CM000663.1:g.160100460_160100489del | GRCh37 |
NC_000001.9:g.158367084_158367113del | NCBI36 |
NG_008014.1:g.19913_19942del , LRG_6:g.19913_19942del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.1827+73_1827+102del MANE Select | ENSP00000354490.3:n.1827+73_1827+102del | |
ENST00000361216.7:c.1827+73_1827+102del | ENSP00000354490.3:n.1827+73_1827+102del | |
ENST00000392233.7:c.1827+73_1827+102del | ENSP00000376066.3:n.1827+73_1827+102del | |
ENST00000447527.1:c.959+73_959+102del | ||
ENST00000472488.5:n.1930+73_1930+102del | ||
NM_000702.3:c.1827+73_1827+102del | NP_000693.1:n.1827+73_1827+102del | |
NM_000702.4:c.1827+73_1827+102del MANE Select | NP_000693.1:n.1827+73_1827+102del |