HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813989_129813990del , CM000671.2:g.129813989_129813990del | GRCh38 |
NC_000009.11:g.132576268_132576269del , CM000671.1:g.132576268_132576269del | GRCh37 |
NC_000009.10:g.131616089_131616090del | NCBI36 |
NG_008049.1:g.15173_15174del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.981_982del MANE Select | ENSP00000345719.4:p.Asp327GlufsTer5 | |
ENST00000651202.1:c.*249_*250del | ENSP00000498222.1:n.*249_*250del | |
ENST00000351698.4:c.981_982del | ENSP00000345719.4:p.Asp327GlufsTer5 | |
ENST00000474192.1:n.565_566del | ||
NM_000113.2:c.981_982del | NP_000104.1:p.Asp327GlufsTer5 | |
XR_929731.3:n.1176_1177del | ||
NM_000113.3:c.981_982del MANE Select | NP_000104.1:p.Asp327GlufsTer5 |