HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52038093_52038107del , CM000666.2:g.52038093_52038107del | GRCh38 |
NC_000004.11:g.52904259_52904273del , CM000666.1:g.52904259_52904273del | GRCh37 |
NC_000004.10:g.52599016_52599030del | NCBI36 |
NG_008891.1:g.5221_5235del , LRG_204:g.5221_5235del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.33+128_33+142del MANE Select | ENSP00000370839.6:n.33+128_33+142del | |
ENST00000381431.9:c.33+128_33+142del | ENSP00000370839.5:n.33+128_33+142del | |
ENST00000506357.5:c.19+128_19+142del | ||
NM_000232.4:c.33+128_33+142del , LRG_204t1:c.33+128_33+142del | NP_000223.1:n.33+128_33+142del | |
XM_011534403.1:c.33+128_33+142del | XP_011532705.1:n.33+128_33+142del | |
NM_000232.5:c.33+128_33+142del MANE Select | NP_000223.1:n.33+128_33+142del |