HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23429181_23429182insAT , CM000676.2:g.23429181_23429182insAT | GRCh38 |
NC_000014.8:g.23898390_23898391insAT , CM000676.1:g.23898390_23898391insAT | GRCh37 |
NC_000014.7:g.22968230_22968231insAT | NCBI36 |
NG_007884.1:g.11480_11481insAT , LRG_384:g.11480_11481insAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.1257+47_1257+48insAT MANE Select | ENSP00000347507.3:n.1257+47_1257+48insAT | |
ENST00000355349.3:c.1257+47_1257+48insAT | ENSP00000347507.3:n.1257+47_1257+48insAT | |
NM_000257.3:c.1257+47_1257+48insAT | NP_000248.2:n.1257+47_1257+48insAT | |
XR_245686.3:n.1363+47_1363+48insAT | ||
XM_017021340.1:c.1257+47_1257+48insAT | XP_016876829.1:n.1257+47_1257+48insAT | |
NM_000257.4:c.1257+47_1257+48insAT MANE Select | NP_000248.2:n.1257+47_1257+48insAT |