HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71942846_71942847delinsCA , CM000674.2:g.71942846_71942847delinsCA | GRCh38 |
NC_000012.11:g.72336626_72336627delinsCA , CM000674.1:g.72336626_72336627delinsCA | GRCh37 |
NC_000012.10:g.70622893_70622894delinsCA | NCBI36 |
NG_008279.1:g.9001_9002delinsCA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333850.4:c.255+1113_255+1114delinsCA MANE Select | ENSP00000329093.3:n.255+1113_255+1114delinsCA | |
ENST00000333850.3:c.255+1113_255+1114delinsCA | ENSP00000329093.3:n.255+1113_255+1114delinsCA | |
ENST00000546576.1:n.265+1113_265+1114delinsCA | ||
NM_173353.3:c.255+1113_255+1114delinsCA | NP_775489.2:n.255+1113_255+1114delinsCA | |
XR_245894.2:n.355+1113_355+1114delinsCA | ||
XR_001748575.1:n.355+1113_355+1114delinsCA | ||
NM_173353.4:c.255+1113_255+1114delinsCA MANE Select | NP_775489.2:n.255+1113_255+1114delinsCA |