HGVS | Genome Assembly |
---|---|
NC_000023.11:g.43958501_43958504del , CM000685.2:g.43958501_43958504del | GRCh38 |
NC_000023.10:g.43817747_43817750del , CM000685.1:g.43817747_43817750del | GRCh37 |
NC_000023.9:g.43702691_43702694del | NCBI36 |
NG_009832.1:g.20172_20175del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642620.1:c.142_145del (NDP) MANE Select | ENSP00000495972.1:p.Ile48ValfsTer? | |
ENST00000647044.1:c.142_145del (NDP) | ENSP00000495811.1:p.Ile48ValfsTer? | |
ENST00000378062.5:c.142_145del (NDP) | ENSP00000367301.5:p.Ile48ValfsTer? | |
ENST00000470584.1:n.218+214_218+217del (NDP) | ||
NM_000266.3:c.142_145del (NDP) | NP_000257.1:p.Ile48ValfsTer? | |
NR_046631.1:n.467-2284_467-2281del (NDP-AS1) | ||
NM_000266.4:c.142_145del (NDP) MANE Select | NP_000257.1:p.Ile48ValfsTer? |