HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199267_137199284dup , CM000671.2:g.137199267_137199284dup | GRCh38 |
NC_000009.11:g.140093719_140093736dup , CM000671.1:g.140093719_140093736dup | GRCh37 |
NC_000009.10:g.139213540_139213557dup | NCBI36 |
NG_027801.1:g.6443_6460dup | |
NG_027801.2:g.9925_9942dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1443_1460dup MANE Select | ENSP00000387100.4:p.Pro487_Gly488insLeuHisProAlaArgPro | |
ENST00000333046.8:c.837_854dup | ENSP00000327617.4:p.Pro285_Gly286insLeuHisProAlaArgPro | |
ENST00000409012.4:c.1443_1460dup | ENSP00000387100.4:p.Pro487_Gly488insLeuHisProAlaArgPro | |
ENST00000541945.1:n.90+4835_90+4852dup | ||
NM_001128228.2:c.1443_1460dup | NP_001121700.2:p.Pro487_Gly488insLeuHisProAlaArgPro | |
NM_001128228.3:c.1443_1460dup MANE Select | NP_001121700.2:p.Pro487_Gly488insLeuHisProAlaArgPro |