HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19958016_19958035dup , CM000670.2:g.19958016_19958035dup | GRCh38 |
NC_000008.10:g.19815527_19815546dup , CM000670.1:g.19815527_19815546dup | GRCh37 |
NC_000008.9:g.19859807_19859826dup | NCBI36 |
NG_008855.1:g.23946_23965dup | |
NG_008855.2:g.61300_61319dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.1019-1244_1019-1225dup MANE Select | ENSP00000497642.1:n.1019-1244_1019-1225dup | |
ENST00000650478.1:c.79+1933_79+1952dup | ENSP00000497560.1:n.79+1933_79+1952dup | |
ENST00000311322.8:c.1019-1244_1019-1225dup | ENSP00000309757.6:n.1019-1244_1019-1225dup | |
NM_000237.2:c.1019-1244_1019-1225dup | NP_000228.1:n.1019-1244_1019-1225dup | |
NM_000237.3:c.1019-1244_1019-1225dup MANE Select | NP_000228.1:n.1019-1244_1019-1225dup |