HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981407_149981408del , CM000667.2:g.149981407_149981408del | GRCh38 |
NC_000005.9:g.149360970_149360971del , CM000667.1:g.149360970_149360971del | GRCh37 |
NC_000005.8:g.149341163_149341164del | NCBI36 |
NG_007147.2:g.22525_22526del , LRG_684:g.22525_22526del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.1814_1815del MANE Select | ENSP00000286298.4:p.Asn605ThrfsTer29 | |
ENST00000286298.4:c.1814_1815del | ENSP00000286298.4:p.Asn605ThrfsTer29 | |
ENST00000503336.1:c.372+3056_372+3057del | ENSP00000426053.1:n.372+3056_372+3057del | |
NM_000112.3:c.1814_1815del , LRG_684t1:c.1814_1815del | NP_000103.2:p.Asn605ThrfsTer29 | |
XM_017009191.2:c.1814_1815del | XP_016864680.1:p.Asn605ThrfsTer29 | |
NM_000112.4:c.1814_1815del MANE Select | NP_000103.2:p.Asn605ThrfsTer29 |