HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667714_31667737dup , CM000683.2:g.31667714_31667737dup | GRCh38 |
NC_000021.8:g.33040027_33040050dup , CM000683.1:g.33040027_33040050dup | GRCh37 |
NC_000021.7:g.31961898_31961921dup | NCBI36 |
NG_008689.1:g.13093_13116dup , LRG_652:g.13093_13116dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.357+339_357+362dup MANE Select | ENSP00000270142.7:n.357+339_357+362dup | |
ENST00000270142.10:c.357+339_357+362dup | ENSP00000270142.6:n.357+339_357+362dup | |
ENST00000389995.4:c.300+339_300+362dup | ENSP00000374645.4:n.300+339_300+362dup | |
ENST00000470944.1:n.1285+339_1285+362dup | ||
NM_000454.4:c.357+339_357+362dup , LRG_652t1:c.357+339_357+362dup | NP_000445.1:n.357+339_357+362dup | |
NM_000454.5:c.357+339_357+362dup MANE Select | NP_000445.1:n.357+339_357+362dup |