HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13885321_13885325del , CM000680.2:g.13885321_13885325del | GRCh38 |
NC_000018.9:g.13885320_13885324del , CM000680.1:g.13885320_13885324del | GRCh37 |
NC_000018.8:g.13875320_13875324del | NCBI36 |
NG_011819.1:g.35214_35218del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327606.4:c.196_200del MANE Select | ENSP00000333821.2:p.Leu66HisfsTer3 | |
ENST00000327606.3:c.196_200del | ENSP00000333821.2:p.Leu66HisfsTer3 | |
ENST00000399821.2:c.196_200del | ENSP00000382718.2:p.Leu66HisfsTer3 | |
NM_000529.2:c.196_200del MANE Select | NP_000520.1:p.Leu66HisfsTer3 | |
NM_001291911.1:c.196_200del | NP_001278840.1:p.Leu66HisfsTer3 | |
XM_017025781.1:c.196_200del | XP_016881270.1:p.Leu66HisfsTer3 |