gnomAD v2:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5681306_5681307del , CM000666.2:g.5681306_5681307del | GRCh38 |
| NC_000004.11:g.5683033_5683034del , CM000666.1:g.5683033_5683034del | GRCh37 |
| NC_000004.10:g.5733934_5733935del | NCBI36 |
| NG_015821.1:g.33245_33246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.826_827del MANE Select | ENSP00000342144.5:p.Gln276AlafsTer? | |
| ENST00000310917.6:c.586_587del | ENSP00000311683.2:p.Gln196AlafsTer? | |
| ENST00000344408.9:c.826_827del | ENSP00000342144.5:p.Gln276AlafsTer? | |
| ENST00000475313.5:c.586_587del | ENSP00000431981.1:p.Gln196AlafsTer? | |
| ENST00000509670.1:c.586_587del | ENSP00000423876.1:p.Gln196AlafsTer? | |
| NM_001166136.1:c.586_587del | NP_001159608.1:p.Gln196AlafsTer? | |
| NM_147127.4:c.826_827del | NP_667338.3:p.Gln276AlafsTer? | |
| XM_011513392.1:c.826_827del | XP_011511694.1:p.Gln276AlafsTer? | |
| XM_011513393.1:c.826_827del | XP_011511695.1:p.Gln276AlafsTer? | |
| XM_011513394.1:c.586_587del | XP_011511696.1:p.Gln196AlafsTer? | |
| XM_017007736.1:c.586_587del | XP_016863225.1:p.Gln196AlafsTer? | |
| XM_017007737.1:c.586_587del | XP_016863226.1:p.Gln196AlafsTer? | |
| XM_017007738.1:c.826_827del | XP_016863227.1:p.Gln276AlafsTer? | |
| XM_017007739.1:c.-847_-846del | XP_016863228.1:n.-847_-846del | |
| XM_024453893.1:c.-951_-950del | XP_024309661.1:n.-951_-950del | |
| XR_001741141.1:n.891_892del | ||
| NM_147127.5:c.826_827del MANE Select | NP_667338.3:p.Gln276AlafsTer? | |
| NM_001166136.2:c.586_587del | NP_001159608.1:p.Gln196AlafsTer? |