HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135833055_135833057del , CM000664.2:g.135833055_135833057del | GRCh38 |
NC_000002.11:g.136590625_136590627del , CM000664.1:g.136590625_136590627del | GRCh37 |
NC_000002.10:g.136307095_136307097del | NCBI36 |
NG_008104.2:g.27116_27118del , LRG_338:g.27116_27118del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.720+57_720+59del MANE Select | ENSP00000264162.2:n.720+57_720+59del | |
ENST00000264162.6:c.720+57_720+59del | ENSP00000264162.2:n.720+57_720+59del | |
NM_002299.2:c.720+57_720+59del , LRG_338t1:c.720+57_720+59del | NP_002290.2:n.720+57_720+59del | |
NM_002299.3:c.720+57_720+59del | NP_002290.2:n.720+57_720+59del | |
XM_017004088.2:c.720+57_720+59del | XP_016859577.1:n.720+57_720+59del | |
NM_002299.4:c.720+57_720+59del MANE Select | NP_002290.2:n.720+57_720+59del |