Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945779_138945780insTAGTTGCCCTTCT , CM000665.2:g.138945779_138945780insTAGTTGCCCTTCT | GRCh38 |
| NC_000003.11:g.138664621_138664622insTAGTTGCCCTTCT , CM000665.1:g.138664621_138664622insTAGTTGCCCTTCT | GRCh37 |
| NC_000003.10:g.140147311_140147312insTAGTTGCCCTTCT | NCBI36 |
| NG_012454.1:g.6361_6362insAGAAGGGCAACTA | |
| NG_029796.1:g.3546_3547insTAGTTGCCCTTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.943_944insAGAAGGGCAACTA MANE Select | ENSP00000497217.1:p.Ala315GlufsTer? | |
| ENST00000330315.3:c.943_944insAGAAGGGCAACTA | ENSP00000333188.3:p.Ala315GlufsTer? | |
| NM_023067.3:c.943_944insAGAAGGGCAACTA | NP_075555.1:p.Ala315GlufsTer? | |
| NM_023067.4:c.943_944insAGAAGGGCAACTA MANE Select | NP_075555.1:p.Ala315GlufsTer? |