HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40867110_40867113dup , CM000679.2:g.40867110_40867113dup | GRCh38 |
NC_000017.10:g.39023362_39023365dup , CM000679.1:g.39023362_39023365dup | GRCh37 |
NC_000017.9:g.36276888_36276891dup | NCBI36 |
NG_008077.1:g.5099_5102dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251643.5:c.75_78dup MANE Select | ENSP00000251643.4:p.Ile27CysfsTer? | |
ENST00000647902.1:c.75_78dup | ENSP00000497770.1:p.Ile27CysfsTer? | |
ENST00000251643.4:c.75_78dup | ENSP00000251643.4:p.Ile27CysfsTer? | |
NM_000223.3:c.75_78dup | NP_000214.1:p.Ile27CysfsTer? | |
XR_934754.1:n.1500+16250_1500+16253dup | ||
XR_934754.2:n.2008+16250_2008+16253dup | ||
NM_000223.4:c.75_78dup MANE Select | NP_000214.1:p.Ile27CysfsTer? |