HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814009_129814010delinsGT , CM000671.2:g.129814009_129814010delinsGT | GRCh38 |
NC_000009.11:g.132576288_132576289delinsGT , CM000671.1:g.132576288_132576289delinsGT | GRCh37 |
NC_000009.10:g.131616109_131616110delinsGT | NCBI36 |
NG_008049.1:g.15153_15154delinsAC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.961_962delinsAC MANE Select | ENSP00000345719.4:p.Thr321= | |
ENST00000651202.1:c.*229_*230delinsAC | ENSP00000498222.1:n.*229_*230delinsAC | |
ENST00000351698.4:c.961_962delinsAC | ENSP00000345719.4:p.Thr321= | |
ENST00000474192.1:n.545_546delinsAC | ||
NM_000113.2:c.961_962delinsAC | NP_000104.1:p.Thr321= | |
XR_929731.3:n.1156_1157delinsAC | ||
NM_000113.3:c.961_962delinsAC MANE Select | NP_000104.1:p.Thr321= |