Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061824_129061833delinsCTGGAAACCA , CM000665.2:g.129061824_129061833delinsCTGGAAACCA | GRCh38 |
| NC_000003.11:g.128780667_128780676delinsCTGGAAACCA , CM000665.1:g.128780667_128780676delinsCTGGAAACCA | GRCh37 |
| NC_000003.10:g.130263357_130263366delinsCTGGAAACCA | NCBI36 |
| NG_008715.1:g.6023_6032delinsCTGGAAACCA , LRG_477:g.6023_6032delinsCTGGAAACCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.85_94delinsCTGGAAACCA MANE Select | ENSP00000303942.4:p.Leu29= | |
| ENST00000307395.4:c.85_94delinsCTGGAAACCA | ENSP00000303942.4:p.Leu29= | |
| NM_000174.4:c.85_94delinsCTGGAAACCA , LRG_477t1:c.85_94delinsCTGGAAACCA | NP_000165.1:p.Leu29= | |
| XM_005247374.3:c.85_94delinsCTGGAAACCA | XP_005247431.1:p.Leu29= | |
| XM_011512701.1:c.85_94delinsCTGGAAACCA | XP_011511003.1:p.Leu29= | |
| XM_011512702.1:c.85_94delinsCTGGAAACCA | XP_011511004.1:p.Leu29= | |
| NM_000174.5:c.85_94delinsCTGGAAACCA MANE Select | NP_000165.1:p.Leu29= |