Linked Data
dbSNP Id:
rs1828244689
gnomAD v3:
9-94639166-CCGCCGAAG-C
gnomAD v4:
9-94639166-CCGCCGAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639167_94639174del , CM000671.2:g.94639167_94639174del | GRCh38 |
| NC_000009.11:g.97401449_97401456del , CM000671.1:g.97401449_97401456del | GRCh37 |
| NC_000009.10:g.96441270_96441277del | NCBI36 |
| NG_008174.1:g.6076_6083del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.137_144del | ENSP00000507547.1:p.Ser46CysfsTer21 | |
| ENST00000375326.9:c.137_144del MANE Select | ENSP00000364475.5:p.Ser46CysfsTer21 | |
| ENST00000375326.8:c.137_144del | ENSP00000364475.4:p.Ser46CysfsTer21 | |
| ENST00000414122.1:c.-83+870_-83+877del | ENSP00000411619.1:n.-83+870_-83+877del | |
| ENST00000415431.5:c.137_144del | ENSP00000408025.1:p.Ser46CysfsTer21 | |
| NM_000507.3:c.137_144del | NP_000498.2:p.Ser46CysfsTer21 | |
| NM_001127628.1:c.137_144del | NP_001121100.1:p.Ser46CysfsTer21 | |
| XM_006717005.2:c.-77+870_-77+877del | XP_006717068.1:n.-77+870_-77+877del | |
| XM_006717005.4:c.-77+870_-77+877del | XP_006717068.1:n.-77+870_-77+877del | |
| NM_000507.4:c.137_144del MANE Select | NP_000498.2:p.Ser46CysfsTer21 | |
| NM_001127628.2:c.137_144del | NP_001121100.1:p.Ser46CysfsTer21 |