HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159326794_159326808dup , CM000667.2:g.159326794_159326808dup | GRCh38 |
NC_000005.9:g.158753802_158753816dup , CM000667.1:g.158753802_158753816dup | GRCh37 |
NC_000005.8:g.158686380_158686394dup | NCBI36 |
NG_009618.1:g.8668_8682dup , LRG_71:g.8668_8682dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-149+3626_-149+3640dup | ENSP00000512849.1:n.-149+3626_-149+3640dup | |
ENST00000696751.1:c.1-24_1-10dup | ENSP00000512850.1:n.1-24_1-10dup | |
ENST00000696752.1:n.433-24_433-10dup | ||
ENST00000231228.3:c.1-24_1-10dup MANE Select | ENSP00000231228.2:n.1-24_1-10dup | |
ENST00000231228.2:c.1-24_1-10dup | ENSP00000231228.2:n.1-24_1-10dup | |
NM_002187.2:c.1-24_1-10dup , LRG_71t1:c.1-24_1-10dup | NP_002178.2:n.1-24_1-10dup | |
NM_002187.3:c.1-24_1-10dup MANE Select | NP_002178.2:n.1-24_1-10dup |