Linked Data
dbSNP Id:
rs748150830
ExAC:
3:148711944 CACTA / C
gnomAD v2:
3-148711944-CACTA-C
gnomAD v4:
3-148994157-CACTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148994160_148994163del , CM000665.2:g.148994160_148994163del | GRCh38 |
| NC_000003.11:g.148711947_148711950del , CM000665.1:g.148711947_148711950del | GRCh37 |
| NC_000003.10:g.150194637_150194640del | NCBI36 |
| NG_027677.1:g.7753_7756del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345003.9:c.26_29del MANE Select | ENSP00000340736.4:p.Leu9ProfsTer17 | |
| ENST00000296048.10:c.26_29del | ENSP00000296048.6:p.Leu9ProfsTer17 | |
| ENST00000345003.8:c.26_29del | ENSP00000340736.4:p.Leu9ProfsTer17 | |
| ENST00000461191.1:c.26_29del | ENSP00000420247.1:p.Leu9ProfsTer17 | |
| ENST00000473005.1:c.-113_-110del | ENSP00000417671.1:n.-113_-110del | |
| ENST00000478067.1:n.127_130del | ||
| ENST00000483267.5:c.26_29del | ENSP00000419499.1:p.Leu9ProfsTer17 | |
| ENST00000484197.5:c.26_29del | ENSP00000420683.1:p.Leu9ProfsTer17 | |
| ENST00000492285.6:c.-113_-110del | ENSP00000418297.2:n.-113_-110del | |
| ENST00000627418.2:c.26_29del | ENSP00000486061.1:p.Leu9ProfsTer17 | |
| NM_001184720.1:c.26_29del | NP_001171649.1:p.Leu9ProfsTer17 | |
| NM_001184721.1:c.26_29del | NP_001171650.1:p.Leu9ProfsTer17 | |
| NM_004130.3:c.26_29del | NP_004121.2:p.Leu9ProfsTer17 | |
| XM_017006275.1:c.-34-2142_-34-2139del | XP_016861764.1:n.-34-2142_-34-2139del | |
| NM_004130.4:c.26_29del MANE Select | NP_004121.2:p.Leu9ProfsTer17 | |
| NM_001184720.2:c.26_29del | NP_001171649.1:p.Leu9ProfsTer17 | |
| NM_001184721.2:c.26_29del | NP_001171650.1:p.Leu9ProfsTer17 |