HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775455_94775471del , CM000672.2:g.94775455_94775471del | GRCh38 |
NC_000010.10:g.96535212_96535228del , CM000672.1:g.96535212_96535228del | GRCh37 |
NC_000010.9:g.96525202_96525218del | NCBI36 |
NG_008384.2:g.17750_17766del | |
NG_008384.3:g.17775_17791del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.397_413del MANE Select | ENSP00000360372.3:p.Asn133GlufsTer4 | |
ENST00000645461.1:n.1450_1466del | ||
ENST00000371321.7:c.397_413del | ENSP00000360372.3:p.Asn133GlufsTer4 | |
ENST00000464755.1:c.1160_1176del | ENSP00000483243.1:n.1160_1176del | |
ENST00000480405.2:c.397_413del | ENSP00000483847.1:p.Asn133GlufsTer4 | |
NM_000769.2:c.397_413del | NP_000760.1:p.Asn133GlufsTer4 | |
NM_000769.4:c.397_413del MANE Select | NP_000760.1:p.Asn133GlufsTer4 |