HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775279_94775280dup , CM000672.2:g.94775279_94775280dup | GRCh38 |
NC_000010.10:g.96535036_96535037dup , CM000672.1:g.96535036_96535037dup | GRCh37 |
NC_000010.9:g.96525026_96525027dup | NCBI36 |
NG_008384.2:g.17574_17575dup | |
NG_008384.3:g.17599_17600dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.331+59_331+60dup MANE Select | ENSP00000360372.3:n.331+59_331+60dup | |
ENST00000645461.1:n.1384+59_1384+60dup | ||
ENST00000371321.7:c.331+59_331+60dup | ENSP00000360372.3:n.331+59_331+60dup | |
ENST00000464755.1:c.1094+59_1094+60dup | ENSP00000483243.1:n.1094+59_1094+60dup | |
ENST00000480405.2:c.331+59_331+60dup | ENSP00000483847.1:n.331+59_331+60dup | |
NM_000769.2:c.331+59_331+60dup | NP_000760.1:n.331+59_331+60dup | |
NM_000769.4:c.331+59_331+60dup MANE Select | NP_000760.1:n.331+59_331+60dup |