HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226778_5226785del , CM000673.2:g.5226778_5226785del | GRCh38 |
NC_000011.9:g.5248008_5248015del , CM000673.1:g.5248008_5248015del | GRCh37 |
NC_000011.8:g.5204584_5204591del | NCBI36 |
NG_000007.3:g.70835_70842del | |
NG_059281.1:g.5291_5298del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.111_118del | ENSP00000494175.1:p.Trp38GlufsTer4 | |
ENST00000335295.4:c.111_118del MANE Select | ENSP00000333994.3:p.Trp38GlufsTer4 | |
ENST00000380315.2:c.111_118del | ENSP00000369671.2:p.Trp38GlufsTer4 | |
ENST00000475226.1:n.43_50del | ||
ENST00000485743.1:n.162_169del | ||
ENST00000633227.1:c.95_102del | ENSP00000488004.1:p.Leu32GlnfsTer? | |
NM_000518.4:c.111_118del | NP_000509.1:p.Trp38GlufsTer4 | |
NM_000518.5:c.111_118del MANE Select | NP_000509.1:p.Trp38GlufsTer4 |