HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8076264dup , CM000679.2:g.8076264dup | GRCh38 |
NC_000017.10:g.7979582dup , CM000679.1:g.7979582dup | GRCh37 |
NC_000017.9:g.7920307dup | NCBI36 |
NG_007099.1:g.16443dup | |
NG_007099.2:g.16456dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1446dup MANE Select | ENSP00000497784.1:p.Asn483GlnfsTer2 | |
ENST00000649809.1:c.510dup | ENSP00000496845.1:p.Asn171GlnfsTer2 | |
ENST00000319144.4:c.1446dup | ENSP00000315167.4:p.Asn483GlnfsTer2 | |
ENST00000577351.5:n.393dup | ||
ENST00000583276.5:n.830dup | ||
NM_001139.2:c.1446dup | NP_001130.1:p.Asn483GlnfsTer2 | |
NM_001139.3:c.1446dup MANE Select | NP_001130.1:p.Asn483GlnfsTer2 |