HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667337_31667342del , CM000683.2:g.31667337_31667342del | GRCh38 |
NC_000021.8:g.33039650_33039655del , CM000683.1:g.33039650_33039655del | GRCh37 |
NC_000021.7:g.31961521_31961526del | NCBI36 |
NG_008689.1:g.12716_12721del , LRG_652:g.12716_12721del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.319_324del MANE Select | ENSP00000270142.7:p.Leu107_Ser108del | |
ENST00000270142.10:c.319_324del | ENSP00000270142.6:p.Leu107_Ser108del | |
ENST00000389995.4:c.262_267del | ENSP00000374645.4:p.Leu88_Ser89del | |
ENST00000470944.1:n.1247_1252del | ||
NM_000454.4:c.319_324del , LRG_652t1:c.319_324del | NP_000445.1:p.Leu107_Ser108del | |
NM_000454.5:c.319_324del MANE Select | NP_000445.1:p.Leu107_Ser108del |