HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68647143_68647144insTTTTTTT , CM000666.2:g.68647143_68647144insTTTTTTT | GRCh38 |
NC_000004.11:g.69512861_69512862insTTTTTTT , CM000666.1:g.69512861_69512862insTTTTTTT | GRCh37 |
NC_000004.10:g.69195456_69195457insTTTTTTT | NCBI36 |
NG_052676.1:g.28636_28637insAAAAAAA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.1556_1557insAAAAAAA MANE Select | ENSP00000341045.5:p.Leu520LysfsTer20 | |
ENST00000338206.5:c.1556_1557insAAAAAAA | ENSP00000341045.5:p.Leu520LysfsTer20 | |
ENST00000616841.4:c.1556_1557insAAAAAAA | ENSP00000482004.1:p.Leu520LysfsTer20 | |
NM_001076.3:c.1556_1557insAAAAAAA | NP_001067.2:p.Leu520LysfsTer20 | |
NM_001076.4:c.1556_1557insAAAAAAA MANE Select | NP_001067.2:p.Leu520LysfsTer20 |