HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56450326_56450329dup , CM000674.2:g.56450326_56450329dup | GRCh38 |
NC_000012.11:g.56844110_56844113dup , CM000674.1:g.56844110_56844113dup | GRCh37 |
NC_000012.10:g.55130377_55130380dup | NCBI36 |
NG_021397.1:g.9324_9327dup | |
NG_021397.2:g.23839_23842dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648304.1:c.*1368_*1371dup | ENSP00000497190.1:n.*1368_*1371dup | |
ENST00000652304.1:c.*952_*955dup MANE Select | ENSP00000498622.1:n.*952_*955dup | |
ENST00000257979.4:c.*952_*955dup | ENSP00000257979.4:n.*952_*955dup | |
NM_012064.3:c.*952_*955dup | NP_036196.1:n.*952_*955dup | |
XM_011538354.1:c.*952_*955dup | XP_011536656.1:n.*952_*955dup | |
NM_012064.4:c.*952_*955dup MANE Select | NP_036196.1:n.*952_*955dup | |
XM_017019306.1:c.*952_*955dup | XP_016874795.1:n.*952_*955dup |