HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31498255dup , CM000680.2:g.31498255dup | GRCh38 |
NC_000018.9:g.29078218dup , CM000680.1:g.29078218dup | GRCh37 |
NC_000018.8:g.27332216dup | NCBI36 |
NG_007072.3:g.5014dup , LRG_397:g.5014dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682241.2:c.4dup | ENSP00000507600.2:p.Ala2GlyfsTer18 | |
ENST00000683654.1:c.4dup | ENSP00000506971.1:p.Ala2GlyfsTer18 | |
ENST00000261590.13:c.4dup MANE Select | ENSP00000261590.8:p.Ala2GlyfsTer18 | |
ENST00000261590.12:c.4dup | ENSP00000261590.8:p.Ala2GlyfsTer18 | |
ENST00000585206.1:c.4dup | ENSP00000462503.1:p.Ala2GlyfsTer18 | |
NM_001943.3:c.4dup , LRG_397t1:c.4dup | NP_001934.2:p.Ala2GlyfsTer18 | |
NM_001943.4:c.4dup | NP_001934.2:p.Ala2GlyfsTer18 | |
NM_001943.5:c.4dup MANE Select | NP_001934.2:p.Ala2GlyfsTer18 |