HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32202930_32202931del , CM000668.2:g.32202930_32202931del | GRCh38 |
NC_000006.11:g.32170707_32170708del , CM000668.1:g.32170707_32170708del | GRCh37 |
NC_000006.10:g.32278685_32278686del | NCBI36 |
NG_028190.1:g.26139_26140del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.3232-330_3232-329del MANE Select | ENSP00000364163.3:n.3232-330_3232-329del | |
ENST00000474612.1:n.988_989del | ||
NM_004557.3:c.3232-330_3232-329del | NP_004548.3:n.3232-330_3232-329del | |
NR_134949.1:n.3472+841_3472+842del | ||
NR_134950.1:n.3370+841_3370+842del | ||
NM_004557.4:c.3232-330_3232-329del MANE Select | NP_004548.3:n.3232-330_3232-329del | |
NR_134949.2:n.3472+841_3472+842del | ||
NR_134950.2:n.3370+841_3370+842del |