HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981786dup , CM000667.2:g.149981786dup | GRCh38 |
NC_000005.9:g.149361349dup , CM000667.1:g.149361349dup | GRCh37 |
NC_000005.8:g.149341542dup | NCBI36 |
NG_007147.2:g.22904dup , LRG_684:g.22904dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.2193dup MANE Select | ENSP00000286298.4:p.Asn732GlnfsTer6 | |
ENST00000286298.4:c.2193dup | ENSP00000286298.4:p.Asn732GlnfsTer6 | |
ENST00000503336.1:c.372+3435dup | ENSP00000426053.1:n.372+3435dup | |
NM_000112.3:c.2193dup , LRG_684t1:c.2193dup | NP_000103.2:p.Asn732GlnfsTer6 | |
XM_017009191.2:c.2193dup | XP_016864680.1:p.Asn732GlnfsTer6 | |
NM_000112.4:c.2193dup MANE Select | NP_000103.2:p.Asn732GlnfsTer6 |