HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49636203_49636220dup , CM000681.2:g.49636203_49636220dup | GRCh38 |
NC_000019.9:g.50139460_50139477dup , CM000681.1:g.50139460_50139477dup | GRCh37 |
NC_000019.8:g.54831272_54831289dup | NCBI36 |
NG_042222.1:g.8927_8944dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246792.4:c.454-365_454-348dup MANE Select | ENSP00000246792.2:n.454-365_454-348dup | |
ENST00000246792.3:c.454-365_454-348dup | ENSP00000246792.2:n.454-365_454-348dup | |
ENST00000601532.1:n.594-365_594-348dup | ||
NM_006270.3:c.454-365_454-348dup | NP_006261.1:n.454-365_454-348dup | |
NM_006270.4:c.454-365_454-348dup | NP_006261.1:n.454-365_454-348dup | |
NM_006270.5:c.454-365_454-348dup MANE Select | NP_006261.1:n.454-365_454-348dup |