HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42721514_42721515dup , CM000668.2:g.42721514_42721515dup | GRCh38 |
NC_000006.11:g.42689252_42689253dup , CM000668.1:g.42689252_42689253dup | GRCh37 |
NC_000006.10:g.42797230_42797231dup | NCBI36 |
NG_009176.1:g.6106_6107dup | |
NG_009176.2:g.6106_6107dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.581+239_581+240dup MANE Select | ENSP00000230381.5:n.581+239_581+240dup | |
ENST00000230381.6:c.581+239_581+240dup | ENSP00000230381.5:n.581+239_581+240dup | |
NM_000322.4:c.581+239_581+240dup | NP_000313.2:n.581+239_581+240dup | |
XR_427834.2:n.1236+239_1236+240dup | ||
XR_926295.1:n.1236+239_1236+240dup | ||
XR_427834.4:n.1286+239_1286+240dup | ||
XR_926295.3:n.1286+239_1286+240dup | ||
NM_000322.5:c.581+239_581+240dup MANE Select | NP_000313.2:n.581+239_581+240dup |