ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197344427_197344428delinsA , CM000663.2:g.197344427_197344428delinsA | GRCh38 |
| NC_000001.10:g.197313557_197313558delinsA , CM000663.1:g.197313557_197313558delinsA | GRCh37 |
| NC_000001.9:g.195580180_195580181delinsA | NCBI36 |
| NG_008483.1:g.81150_81151delinsA | |
| NG_008483.2:g.147966_147967delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.799_800delinsA MANE Select | ENSP00000356370.3:p.Ala267ThrfsTer? | |
| ENST00000638467.1:c.799_800delinsA | ENSP00000491102.1:p.Ala267ThrfsTer? | |
| ENST00000367399.6:c.653-12404_653-12403delinsA | ENSP00000356369.2:n.653-12404_653-12403delinsA | |
| ENST00000367400.7:c.799_800delinsA | ENSP00000356370.3:p.Ala267ThrfsTer? | |
| ENST00000475659.1:n.936_937delinsA | ||
| ENST00000484075.5:c.799_800delinsA | ENSP00000433932.1:p.Ala267ThrfsTer? | |
| ENST00000535699.5:c.592_593delinsA | ENSP00000438786.1:p.Ala198ThrfsTer? | |
| ENST00000538660.5:c.799_800delinsA | ENSP00000438091.1:p.Ala267ThrfsTer? | |
| NM_001193640.1:c.653-12404_653-12403delinsA | NP_001180569.1:n.653-12404_653-12403delinsA | |
| NM_001257965.1:c.592_593delinsA | NP_001244894.1:p.Ala198ThrfsTer? | |
| NM_001257966.1:c.799_800delinsA | NP_001244895.1:p.Ala267ThrfsTer? | |
| NM_201253.2:c.799_800delinsA | NP_957705.1:p.Ala267ThrfsTer? | |
| NR_047563.1:n.1008_1009delinsA | ||
| NR_047564.1:n.1008_1009delinsA | ||
| XM_011509365.1:c.799_800delinsA | XP_011507667.1:p.Ala267ThrfsTer? | |
| XM_011509366.1:c.799_800delinsA | XP_011507668.1:p.Ala267ThrfsTer? | |
| XM_011509367.1:c.799_800delinsA | XP_011507669.1:p.Ala267ThrfsTer? | |
| XM_011509368.1:c.217_218delinsA | XP_011507670.1:p.Ala73ThrfsTer? | |
| XM_011509365.2:c.799_800delinsA | XP_011507667.1:p.Ala267ThrfsTer? | |
| XM_017000851.1:c.96_97delinsA | XP_016856340.1:p.Pro33GlnfsTer? | |
| XM_017000852.1:c.799_800delinsA | XP_016856341.1:p.Ala267ThrfsTer? | |
| NM_201253.3:c.799_800delinsA MANE Select | NP_957705.1:p.Ala267ThrfsTer? | |
| NM_001193640.2:c.653-12404_653-12403delinsA | NP_001180569.1:n.653-12404_653-12403delinsA | |
| NM_001257965.2:c.592_593delinsA | NP_001244894.1:p.Ala198ThrfsTer? | |
| NR_047563.2:n.960_961delinsA | ||
| NR_047564.2:n.960_961delinsA | ||
| NM_001257966.2:c.799_800delinsA | NP_001244895.1:p.Ala267ThrfsTer? |