HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370389_34370392del , CM000683.2:g.34370389_34370392del | GRCh38 |
NC_000021.8:g.35742688_35742691del , CM000683.1:g.35742688_35742691del | GRCh37 |
NC_000021.7:g.34664558_34664561del | NCBI36 |
NG_008804.1:g.11366_11369del , LRG_291:g.11366_11369del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290310.4:c.-12-78_-12-75del MANE Select | ENSP00000290310.2:n.-12-78_-12-75del | |
ENST00000290310.3:c.-12-78_-12-75del | ENSP00000290310.2:n.-12-78_-12-75del | |
NM_172201.1:c.-12-78_-12-75del , LRG_291t1:c.-12-78_-12-75del | NP_751951.1:n.-12-78_-12-75del | |
XR_937683.1:n.886+48_886+51del | ||
XR_937684.1:n.886+48_886+51del | ||
XR_001755012.2:n.1055_1058del | ||
XR_001755013.2:n.934_937del | ||
XR_937683.2:n.886+48_886+51del | ||
NM_172201.2:c.-12-78_-12-75del MANE Select | NP_751951.1:n.-12-78_-12-75del |