HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110601744_110601746del , CM000672.2:g.110601744_110601746del | GRCh38 |
NC_000010.10:g.112361502_112361504del , CM000672.1:g.112361502_112361504del | GRCh37 |
NC_000010.9:g.112351492_112351494del | NCBI36 |
NG_012217.1:g.39054_39056del , LRG_774:g.39054_39056del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684988.1:n.4985_4987del | ||
ENST00000685743.1:n.2460_2462del | ||
ENST00000686057.1:n.1103_1105del | ||
ENST00000689321.1:n.1715_1717del | ||
ENST00000689986.1:n.541_543del | ||
ENST00000361804.5:c.2752_2754del MANE Select | ENSP00000354720.5:p.Asp918del | |
ENST00000361804.4:c.2752_2754del | ENSP00000354720.4:p.Asp918del | |
NM_005445.3:c.2752_2754del , LRG_774t1:c.2752_2754del | NP_005436.1:p.Asp918del | |
NM_005445.4:c.2752_2754del MANE Select | NP_005436.1:p.Asp918del |