HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423441_23423442insAACA , CM000676.2:g.23423441_23423442insAACA | GRCh38 |
NC_000014.8:g.23892650_23892651insAACA , CM000676.1:g.23892650_23892651insAACA | GRCh37 |
NC_000014.7:g.22962490_22962491insAACA | NCBI36 |
NG_007884.1:g.17223_17224insTTGT , LRG_384:g.17223_17224insTTGT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+108_3099+109insTTGT MANE Select | ENSP00000347507.3:n.3099+108_3099+109insTTGT | |
ENST00000355349.3:c.3099+108_3099+109insTTGT | ENSP00000347507.3:n.3099+108_3099+109insTTGT | |
NM_000257.3:c.3099+108_3099+109insTTGT | NP_000248.2:n.3099+108_3099+109insTTGT | |
XR_245686.3:n.3205+108_3205+109insTTGT | ||
XM_017021340.1:c.3099+108_3099+109insTTGT | XP_016876829.1:n.3099+108_3099+109insTTGT | |
NM_000257.4:c.3099+108_3099+109insTTGT MANE Select | NP_000248.2:n.3099+108_3099+109insTTGT |