HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107783065_107783066del , CM000669.2:g.107783065_107783066del | GRCh38 |
NC_000007.13:g.107423510_107423511del , CM000669.1:g.107423510_107423511del | GRCh37 |
NC_000007.12:g.107210746_107210747del | NCBI36 |
NG_008046.1:g.25169_25170del , LRG_683:g.25169_25170del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340010.10:c.1148_1149del MANE Select | ENSP00000345873.5:p.Ile383SerfsTer? | |
ENST00000340010.9:c.1148_1149del | ENSP00000345873.5:p.Ile383SerfsTer? | |
ENST00000379083.7:c.*939_*940del | ENSP00000368375.3:n.*939_*940del | |
ENST00000468551.1:n.426_427del | ||
NM_000111.2:c.1148_1149del , LRG_683t1:c.1148_1149del | NP_000102.1:p.Ile383SerfsTer? | |
XM_011515867.1:c.1148_1149del | XP_011514169.1:p.Ile383SerfsTer? | |
NM_000111.3:c.1148_1149del MANE Select | NP_000102.1:p.Ile383SerfsTer? |