HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213569_1213570insAGGGAGGT , CM000667.2:g.1213569_1213570insAGGGAGGT | GRCh38 |
NC_000005.9:g.1213684_1213685insAGGGAGGT , CM000667.1:g.1213684_1213685insAGGGAGGT | GRCh37 |
NC_000005.8:g.1266684_1266685insAGGGAGGT | NCBI36 |
NG_008282.1:g.16975_16976insAGGGAGGT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.770_771insAGGGAGGT MANE Select | ENSP00000305302.10:p.Asn258GlyfsTer? | |
ENST00000304460.10:c.770_771insAGGGAGGT | ENSP00000305302.10:p.Asn258GlyfsTer? | |
ENST00000515652.5:c.678_679insAGGGAGGT | ENSP00000425701.1:p.Gln227ArgfsTer? | |
NM_001003841.2:c.770_771insAGGGAGGT | NP_001003841.1:p.Asn258GlyfsTer? | |
NM_001003841.3:c.770_771insAGGGAGGT MANE Select | NP_001003841.1:p.Asn258GlyfsTer? |