HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94850198_94850199del , CM000672.2:g.94850198_94850199del | GRCh38 |
NC_000010.10:g.96609955_96609956del , CM000672.1:g.96609955_96609956del | GRCh37 |
NC_000010.9:g.96599945_96599946del | NCBI36 |
NG_008384.2:g.92493_92494del | |
NG_008384.3:g.92518_92519del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.1291+140_1291+141del MANE Select | ENSP00000360372.3:n.1291+140_1291+141del | |
ENST00000645461.1:n.2202+140_2202+141del | ||
ENST00000371321.7:c.1291+140_1291+141del | ENSP00000360372.3:n.1291+140_1291+141del | |
ENST00000464755.1:c.2054+140_2054+141del | ENSP00000483243.1:n.2054+140_2054+141del | |
NM_000769.2:c.1291+140_1291+141del | NP_000760.1:n.1291+140_1291+141del | |
NM_000769.4:c.1291+140_1291+141del MANE Select | NP_000760.1:n.1291+140_1291+141del |