HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19958032_19958034dup , CM000670.2:g.19958032_19958034dup | GRCh38 |
NC_000008.10:g.19815543_19815545dup , CM000670.1:g.19815543_19815545dup | GRCh37 |
NC_000008.9:g.19859823_19859825dup | NCBI36 |
NG_008855.1:g.23962_23964dup | |
NG_008855.2:g.61316_61318dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1019-1228_1019-1226dup MANE Select | ENSP00000497642.1:n.1019-1228_1019-1226dup | |
ENST00000650478.1:c.79+1949_79+1951dup | ENSP00000497560.1:n.79+1949_79+1951dup | |
ENST00000311322.8:c.1019-1228_1019-1226dup | ENSP00000309757.6:n.1019-1228_1019-1226dup | |
NM_000237.2:c.1019-1228_1019-1226dup | NP_000228.1:n.1019-1228_1019-1226dup | |
NM_000237.3:c.1019-1228_1019-1226dup MANE Select | NP_000228.1:n.1019-1228_1019-1226dup |