HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199480_137199482dup , CM000671.2:g.137199480_137199482dup | GRCh38 |
NC_000009.11:g.140093932_140093934dup , CM000671.1:g.140093932_140093934dup | GRCh37 |
NC_000009.10:g.139213753_139213755dup | NCBI36 |
NG_027801.1:g.6232_6234dup | |
NG_027801.2:g.9714_9716dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409012.6:c.1232_1234dup MANE Select | ENSP00000387100.4:p.Ile411_Arg412insIle | |
ENST00000333046.8:c.626_628dup | ENSP00000327617.4:p.Ile209_Arg210insIle | |
ENST00000409012.4:c.1232_1234dup | ENSP00000387100.4:p.Ile411_Arg412insIle | |
ENST00000541945.1:n.90+4624_90+4626dup | ||
NM_001128228.2:c.1232_1234dup | NP_001121700.2:p.Ile411_Arg412insIle | |
NM_001128228.3:c.1232_1234dup MANE Select | NP_001121700.2:p.Ile411_Arg412insIle |