HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199479_137199482dup , CM000671.2:g.137199479_137199482dup | GRCh38 |
NC_000009.11:g.140093931_140093934dup , CM000671.1:g.140093931_140093934dup | GRCh37 |
NC_000009.10:g.139213752_139213755dup | NCBI36 |
NG_027801.1:g.6230_6233dup | |
NG_027801.2:g.9712_9715dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1230_1233dup MANE Select | ENSP00000387100.4:p.Arg412TyrfsTer2 | |
ENST00000333046.8:c.624_627dup | ENSP00000327617.4:p.Arg210TyrfsTer2 | |
ENST00000409012.4:c.1230_1233dup | ENSP00000387100.4:p.Arg412TyrfsTer2 | |
ENST00000541945.1:n.90+4622_90+4625dup | ||
NM_001128228.2:c.1230_1233dup | NP_001121700.2:p.Arg412TyrfsTer2 | |
NM_001128228.3:c.1230_1233dup MANE Select | NP_001121700.2:p.Arg412TyrfsTer2 |