HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86632821_86632822delinsTA , CM000670.2:g.86632821_86632822delinsTA | GRCh38 |
NC_000008.10:g.87645049_87645050delinsTA , CM000670.1:g.87645049_87645050delinsTA | GRCh37 |
NC_000008.9:g.87714165_87714166delinsTA | NCBI36 |
NG_016980.1:g.115854_115855delinsTA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.1250_1251delinsTA MANE Select | ENSP00000316605.5:p.Leu417= | |
ENST00000681546.1:n.1070_1071delinsTA | ||
ENST00000681746.1:c.1250_1251delinsTA | ENSP00000505959.1:p.Leu417= | |
ENST00000320005.5:c.1250_1251delinsTA | ENSP00000316605.5:p.Leu417= | |
NM_019098.4:c.1250_1251delinsTA | NP_061971.3:p.Leu417= | |
XM_011517138.1:c.836_837delinsTA | XP_011515440.1:p.Leu279= | |
XM_011517138.2:c.836_837delinsTA | XP_011515440.1:p.Leu279= | |
NM_019098.5:c.1250_1251delinsTA MANE Select | NP_061971.3:p.Leu417= |