HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114713876_114713932dup , CM000663.2:g.114713876_114713932dup | GRCh38 |
NC_000001.10:g.115256497_115256553dup , CM000663.1:g.115256497_115256553dup | GRCh37 |
NC_000001.9:g.115058020_115058076dup | NCBI36 |
NG_007572.1:g.7965_8021dup , LRG_92:g.7965_8021dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.160_216dup MANE Select | ENSP00000358548.4:p.Met72_Arg73insAspIleLeuAspThrAlaGlyGlnGlu... | |
ENST00000369535.4:c.160_216dup | ENSP00000358548.4:p.Met72_Arg73insAspIleLeuAspThrAlaGlyGlnGlu... | |
NM_002524.4:c.160_216dup | NP_002515.1:p.Met72_Arg73insAspIleLeuAspThrAlaGlyGlnGluGluTyr... | |
NM_002524.5:c.160_216dup MANE Select | NP_002515.1:p.Met72_Arg73insAspIleLeuAspThrAlaGlyGlnGluGluTyr... |