HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23422306_23422307delinsTG , CM000676.2:g.23422306_23422307delinsTG | GRCh38 |
NC_000014.8:g.23891515_23891516delinsTG , CM000676.1:g.23891515_23891516delinsTG | GRCh37 |
NC_000014.7:g.22961355_22961356delinsTG | NCBI36 |
NG_007884.1:g.18355_18356delinsCA , LRG_384:g.18355_18356delinsCA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000355349.4:c.3118_3119delinsCA MANE Select | ENSP00000347507.3:p.Gln1040= | |
ENST00000355349.3:c.3118_3119delinsCA | ENSP00000347507.3:p.Gln1040= | |
NM_000257.3:c.3118_3119delinsCA | NP_000248.2:p.Gln1040= | |
XR_245686.3:n.3224_3225delinsCA | ||
XM_017021340.1:c.3118_3119delinsCA | XP_016876829.1:p.Gln1040= | |
NM_000257.4:c.3118_3119delinsCA MANE Select | NP_000248.2:p.Gln1040= |