HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110602075_110602077del , CM000672.2:g.110602075_110602077del | GRCh38 |
NC_000010.10:g.112361833_112361835del , CM000672.1:g.112361833_112361835del | GRCh37 |
NC_000010.9:g.112351823_112351825del | NCBI36 |
NG_012217.1:g.39385_39387del , LRG_774:g.39385_39387del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.5235_5237del | ||
ENST00000685743.1:n.2710_2712del | ||
ENST00000686057.1:n.1353_1355del | ||
ENST00000689321.1:n.1965_1967del | ||
ENST00000689986.1:n.791_793del | ||
ENST00000361804.5:c.3002_3004del MANE Select | ENSP00000354720.5:p.Ile1001del | |
ENST00000361804.4:c.3002_3004del | ENSP00000354720.4:p.Ile1001del | |
NM_005445.3:c.3002_3004del , LRG_774t1:c.3002_3004del | NP_005436.1:p.Ile1001del | |
NM_005445.4:c.3002_3004del MANE Select | NP_005436.1:p.Ile1001del |