HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914200_110914204delinsCCAAA , CM000674.2:g.110914200_110914204delinsCCAAA | GRCh38 |
NC_000012.11:g.111352004_111352008delinsCCAAA , CM000674.1:g.111352004_111352008delinsCCAAA | GRCh37 |
NC_000012.10:g.109836387_109836391delinsCCAAA | NCBI36 |
NG_007554.1:g.11374_11378delinsTTTGG , LRG_393:g.11374_11378delinsTTTGG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.256_260delinsTTTGG MANE Select | ENSP00000228841.8:p.Phe86= | |
ENST00000663220.1:c.199_203delinsTTTGG | ENSP00000499568.1:p.Phe67= | |
ENST00000228841.12:c.256_260delinsTTTGG | ENSP00000228841.7:p.Phe86= | |
ENST00000548438.1:c.214_218delinsTTTGG | ENSP00000447154.1:p.Phe72= | |
ENST00000549029.1:n.87_91delinsTTTGG | ||
NM_000432.3:c.256_260delinsTTTGG , LRG_393t1:c.256_260delinsTTTGG | NP_000423.2:p.Phe86= | |
NM_000432.4:c.256_260delinsTTTGG MANE Select | NP_000423.2:p.Phe86= |