HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713655_6713656dup , CM000681.2:g.6713655_6713656dup | GRCh38 |
NC_000019.9:g.6713666_6713667dup , CM000681.1:g.6713666_6713667dup | GRCh37 |
NC_000019.8:g.6664666_6664667dup | NCBI36 |
NG_009557.1:g.11998_11999dup , LRG_27:g.11998_11999dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.651-145_651-144dup | ENSP00000512083.1:n.651-145_651-144dup | |
ENST00000245907.11:c.774-145_774-144dup MANE Select | ENSP00000245907.4:n.774-145_774-144dup | |
ENST00000245907.10:c.774-145_774-144dup | ENSP00000245907.4:n.774-145_774-144dup | |
ENST00000595577.1:n.278-145_278-144dup | ||
ENST00000597442.5:n.23+112_23+113dup | ||
NM_000064.3:c.774-145_774-144dup | NP_000055.2:n.774-145_774-144dup | |
NM_000064.4:c.774-145_774-144dup MANE Select | NP_000055.2:n.774-145_774-144dup |