HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52038080_52038081del , CM000666.2:g.52038080_52038081del | GRCh38 |
NC_000004.11:g.52904246_52904247del , CM000666.1:g.52904246_52904247del | GRCh37 |
NC_000004.10:g.52599003_52599004del | NCBI36 |
NG_008891.1:g.5240_5241del , LRG_204:g.5240_5241del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.33+147_33+148del MANE Select | ENSP00000370839.6:n.33+147_33+148del | |
ENST00000381431.9:c.33+147_33+148del | ENSP00000370839.5:n.33+147_33+148del | |
ENST00000506357.5:c.19+147_19+148del | ||
NM_000232.4:c.33+147_33+148del , LRG_204t1:c.33+147_33+148del | NP_000223.1:n.33+147_33+148del | |
XM_011534403.1:c.33+147_33+148del | XP_011532705.1:n.33+147_33+148del | |
NM_000232.5:c.33+147_33+148del MANE Select | NP_000223.1:n.33+147_33+148del |