HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47733749_47733750insT , CM000679.2:g.47733749_47733750insT | GRCh38 |
NC_000017.10:g.45811115_45811116insT , CM000679.1:g.45811115_45811116insT | GRCh37 |
NC_000017.9:g.43166114_43166115insT | NCBI36 |
NG_012166.1:g.5506_5507insT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000177694.2:c.295_296insT MANE Select | ENSP00000177694.1:p.Ala99ValfsTer25 | |
ENST00000177694.1:c.295_296insT | ENSP00000177694.1:p.Ala99ValfsTer25 | |
ENST00000581328.1:n.325_326insT | ||
NM_013351.1:c.295_296insT | NP_037483.1:p.Ala99ValfsTer25 | |
XM_011524698.1:c.295_296insT | XP_011523000.1:p.Ala99ValfsTer25 | |
NM_013351.2:c.295_296insT MANE Select | NP_037483.1:p.Ala99ValfsTer25 |