HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713639_6713640del , CM000681.2:g.6713639_6713640del | GRCh38 |
NC_000019.9:g.6713650_6713651del , CM000681.1:g.6713650_6713651del | GRCh37 |
NC_000019.8:g.6664650_6664651del | NCBI36 |
NG_009557.1:g.12012_12013del , LRG_27:g.12012_12013del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.651-131_651-130del | ENSP00000512083.1:n.651-131_651-130del | |
ENST00000245907.11:c.774-131_774-130del MANE Select | ENSP00000245907.4:n.774-131_774-130del | |
ENST00000245907.10:c.774-131_774-130del | ENSP00000245907.4:n.774-131_774-130del | |
ENST00000595577.1:n.278-131_278-130del | ||
ENST00000597442.5:n.23+126_23+127del | ||
NM_000064.3:c.774-131_774-130del | NP_000055.2:n.774-131_774-130del | |
NM_000064.4:c.774-131_774-130del MANE Select | NP_000055.2:n.774-131_774-130del |