HGVS | Genome Assembly |
---|---|
NC_000021.9:g.41741155dup , CM000683.2:g.41741155dup | GRCh38 |
NC_000021.8:g.43161315dup , CM000683.1:g.43161315dup | GRCh37 |
NC_000021.7:g.42034384dup | NCBI36 |
NG_032113.1:g.30936dup | |
NG_032113.2:g.30936dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000332512.8:c.2039dup MANE Select | ENSP00000332454.3:p.Asn680LysfsTer? | |
ENST00000332512.7:c.2039dup | ENSP00000332454.3:p.Asn680LysfsTer? | |
ENST00000352483.3:c.2183dup | ENSP00000330161.2:p.Asn728LysfsTer? | |
NM_020639.2:c.2039dup | NP_065690.2:p.Asn680LysfsTer? | |
NM_020639.3:c.2039dup MANE Select | NP_065690.2:p.Asn680LysfsTer? |