HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713663_6713692dup , CM000681.2:g.6713663_6713692dup | GRCh38 |
NC_000019.9:g.6713674_6713703dup , CM000681.1:g.6713674_6713703dup | GRCh37 |
NC_000019.8:g.6664674_6664703dup | NCBI36 |
NG_009557.1:g.11969_11998dup , LRG_27:g.11969_11998dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.651-174_651-145dup | ENSP00000512083.1:n.651-174_651-145dup | |
ENST00000245907.11:c.774-174_774-145dup MANE Select | ENSP00000245907.4:n.774-174_774-145dup | |
ENST00000245907.10:c.774-174_774-145dup | ENSP00000245907.4:n.774-174_774-145dup | |
ENST00000595577.1:n.278-174_278-145dup | ||
ENST00000597442.5:n.23+83_23+112dup | ||
NM_000064.3:c.774-174_774-145dup | NP_000055.2:n.774-174_774-145dup | |
NM_000064.4:c.774-174_774-145dup MANE Select | NP_000055.2:n.774-174_774-145dup |