ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85666649delinsTTC , CM000664.2:g.85666649delinsTTC | GRCh38 |
| NC_000002.11:g.85893772delinsTTC , CM000664.1:g.85893772delinsTTC | GRCh37 |
| NC_000002.10:g.85747283delinsTTC | NCBI36 |
| NG_016967.1:g.7093delinsGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.361delinsGAA | ENSP00000386346.2:p.Pro121GlufsTer? | |
| ENST00000519937.7:c.361delinsGAA MANE Select | ENSP00000428719.2:p.Pro121GlufsTer? | |
| ENST00000393822.7:c.361delinsGAA | ENSP00000377409.4:p.Pro121GlufsTer? | |
| ENST00000409383.5:c.397delinsGAA | ENSP00000386346.1:p.Pro133GlufsTer? | |
| ENST00000428225.5:c.350delinsGAA | ||
| ENST00000473692.1:n.367delinsGAA | ||
| ENST00000519937.6:c.361delinsGAA | ENSP00000428719.2:p.Pro121GlufsTer? | |
| NM_000542.3:c.397delinsGAA | NP_000533.3:p.Pro133GlufsTer? | |
| NM_198843.2:c.397delinsGAA | NP_942140.2:p.Pro133GlufsTer? | |
| XM_005264487.2:c.397delinsGAA | XP_005264544.1:p.Pro133GlufsTer? | |
| XM_005264488.2:c.361delinsGAA | XP_005264545.2:p.Pro121GlufsTer? | |
| XM_005264490.3:c.361delinsGAA | XP_005264547.2:p.Pro121GlufsTer? | |
| XM_005264488.4:c.361delinsGAA | XP_005264545.2:p.Pro121GlufsTer? | |
| XM_005264490.4:c.361delinsGAA | XP_005264547.2:p.Pro121GlufsTer? | |
| NM_000542.4:c.361delinsGAA | NP_000533.4:p.Pro121GlufsTer? | |
| NM_001367281.1:c.361delinsGAA | NP_001354210.1:p.Pro121GlufsTer? | |
| NM_198843.3:c.361delinsGAA | NP_942140.3:p.Pro121GlufsTer? | |
| NM_000542.5:c.361delinsGAA MANE Select | NP_000533.4:p.Pro121GlufsTer? |