HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667291_31667293dup , CM000683.2:g.31667291_31667293dup | GRCh38 |
NC_000021.8:g.33039604_33039606dup , CM000683.1:g.33039604_33039606dup | GRCh37 |
NC_000021.7:g.31961475_31961477dup | NCBI36 |
NG_008689.1:g.12670_12672dup , LRG_652:g.12670_12672dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.273_275dup MANE Select | ENSP00000270142.7:p.Asp91_Lys92insAsn | |
ENST00000270142.10:c.273_275dup | ENSP00000270142.6:p.Asp91_Lys92insAsn | |
ENST00000389995.4:c.216_218dup | ENSP00000374645.4:p.Asp72_Lys73insAsn | |
ENST00000470944.1:n.1201_1203dup | ||
ENST00000476106.5:n.536_538dup | ||
NM_000454.4:c.273_275dup , LRG_652t1:c.273_275dup | NP_000445.1:p.Asp91_Lys92insAsn | |
NM_000454.5:c.273_275dup MANE Select | NP_000445.1:p.Asp91_Lys92insAsn |