HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7529860_7529862del , CM000681.2:g.7529860_7529862del | GRCh38 |
NC_000019.9:g.7594746_7594748del , CM000681.1:g.7594746_7594748del | GRCh37 |
NC_000019.8:g.7500746_7500748del | NCBI36 |
NG_013374.1:g.709_711del | |
NG_015806.1:g.12251_12253del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1359+148_1359+150del MANE Select | ENSP00000264079.5:n.1359+148_1359+150del | |
ENST00000264079.10:c.1359+148_1359+150del | ENSP00000264079.5:n.1359+148_1359+150del | |
ENST00000394321.9:n.1674+148_1674+150del | ||
ENST00000594692.1:n.355+148_355+150del | ||
ENST00000595860.5:n.542+148_542+150del | ||
ENST00000599334.1:c.236+148_236+150del | ||
NM_020533.2:c.1359+148_1359+150del | NP_065394.1:n.1359+148_1359+150del | |
NM_020533.3:c.1359+148_1359+150del MANE Select | NP_065394.1:n.1359+148_1359+150del |