HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32202721_32202722del , CM000668.2:g.32202721_32202722del | GRCh38 |
NC_000006.11:g.32170498_32170499del , CM000668.1:g.32170498_32170499del | GRCh37 |
NC_000006.10:g.32278476_32278477del | NCBI36 |
NG_028190.1:g.26347_26348del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.3232-122_3232-121del MANE Select | ENSP00000364163.3:n.3232-122_3232-121del | |
ENST00000474612.1:n.1196_1197del | ||
NM_004557.3:c.3232-122_3232-121del | NP_004548.3:n.3232-122_3232-121del | |
NR_134949.1:n.3472+1049_3472+1050del | ||
NR_134950.1:n.3370+1049_3370+1050del | ||
NM_004557.4:c.3232-122_3232-121del MANE Select | NP_004548.3:n.3232-122_3232-121del | |
NR_134949.2:n.3472+1049_3472+1050del | ||
NR_134950.2:n.3370+1049_3370+1050del |