ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003587 (SAS)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38148684del , CM000670.2:g.38148684del | GRCh38 |
| NC_000008.10:g.38006202del , CM000670.1:g.38006202del | GRCh37 |
| NC_000008.9:g.38125359del | NCBI36 |
| NG_011827.1:g.7399del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.135del MANE Select | ENSP00000276449.3:p.Ser46AlafsTer? | |
| ENST00000276449.8:c.135del | ENSP00000276449.3:p.Ser46AlafsTer? | |
| ENST00000520114.1:n.309del | ||
| ENST00000521236.1:c.-144del | ENSP00000430030.1:n.-144del | |
| ENST00000522050.1:c.71del | ||
| NM_000349.2:c.135del | NP_000340.2:p.Ser46AlafsTer? | |
| XM_006716392.1:c.135del | XP_006716455.1:p.Ser46AlafsTer? | |
| NM_000349.3:c.135del MANE Select | NP_000340.2:p.Ser46AlafsTer? |