HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52027971_52027972delinsCT , CM000666.2:g.52027971_52027972delinsCT | GRCh38 |
NC_000004.11:g.52894137_52894138delinsCT , CM000666.1:g.52894137_52894138delinsCT | GRCh37 |
NC_000004.10:g.52588894_52588895delinsCT | NCBI36 |
NG_008891.1:g.15348_15349delinsAG , LRG_204:g.15348_15349delinsAG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.749_750delinsAG MANE Select | ENSP00000370839.6:p.Lys250= | |
ENST00000381431.9:c.749_750delinsAG | ENSP00000370839.5:p.Lys250= | |
NM_000232.4:c.749_750delinsAG , LRG_204t1:c.749_750delinsAG | NP_000223.1:p.Lys250= | |
XM_006714049.2:c.452_453delinsAG | XP_006714112.1:p.Lys151= | |
XM_011534403.1:c.539_540delinsAG | XP_011532705.1:p.Lys180= | |
XM_011534404.1:c.452_453delinsAG | XP_011532706.1:p.Lys151= | |
NM_000232.5:c.749_750delinsAG MANE Select | NP_000223.1:p.Lys250= |