HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135832826_135832830del , CM000664.2:g.135832826_135832830del | GRCh38 |
NC_000002.11:g.136590396_136590400del , CM000664.1:g.136590396_136590400del | GRCh37 |
NC_000002.10:g.136306866_136306870del | NCBI36 |
NG_008104.2:g.27340_27344del , LRG_338:g.27340_27344del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.720+281_720+285del MANE Select | ENSP00000264162.2:n.720+281_720+285del | |
ENST00000264162.6:c.720+281_720+285del | ENSP00000264162.2:n.720+281_720+285del | |
NM_002299.2:c.720+281_720+285del , LRG_338t1:c.720+281_720+285del | NP_002290.2:n.720+281_720+285del | |
NM_002299.3:c.720+281_720+285del | NP_002290.2:n.720+281_720+285del | |
XM_017004088.2:c.720+281_720+285del | XP_016859577.1:n.720+281_720+285del | |
NM_002299.4:c.720+281_720+285del MANE Select | NP_002290.2:n.720+281_720+285del |