HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667632_31667634del , CM000683.2:g.31667632_31667634del | GRCh38 |
NC_000021.8:g.33039945_33039947del , CM000683.1:g.33039945_33039947del | GRCh37 |
NC_000021.7:g.31961816_31961818del | NCBI36 |
NG_008689.1:g.13011_13013del , LRG_652:g.13011_13013del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.357+257_357+259del MANE Select | ENSP00000270142.7:n.357+257_357+259del | |
ENST00000270142.10:c.357+257_357+259del | ENSP00000270142.6:n.357+257_357+259del | |
ENST00000389995.4:c.300+257_300+259del | ENSP00000374645.4:n.300+257_300+259del | |
ENST00000470944.1:n.1285+257_1285+259del | ||
NM_000454.4:c.357+257_357+259del , LRG_652t1:c.357+257_357+259del | NP_000445.1:n.357+257_357+259del | |
NM_000454.5:c.357+257_357+259del MANE Select | NP_000445.1:n.357+257_357+259del |