HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19958804_19958806dup , CM000670.2:g.19958804_19958806dup | GRCh38 |
NC_000008.10:g.19816315_19816317dup , CM000670.1:g.19816315_19816317dup | GRCh37 |
NC_000008.9:g.19860595_19860597dup | NCBI36 |
NG_008855.1:g.24734_24736dup | |
NG_008855.2:g.62088_62090dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.1019-456_1019-454dup MANE Select | ENSP00000497642.1:n.1019-456_1019-454dup | |
ENST00000650478.1:c.80-2097_80-2095dup | ENSP00000497560.1:n.80-2097_80-2095dup | |
ENST00000311322.8:c.1019-456_1019-454dup | ENSP00000309757.6:n.1019-456_1019-454dup | |
NM_000237.2:c.1019-456_1019-454dup | NP_000228.1:n.1019-456_1019-454dup | |
NM_000237.3:c.1019-456_1019-454dup MANE Select | NP_000228.1:n.1019-456_1019-454dup |