gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67435705_67435710del , CM000678.2:g.67435705_67435710del | GRCh38 |
| NC_000016.9:g.67469608_67469613del , CM000678.1:g.67469608_67469613del | GRCh37 |
| NC_000016.8:g.66027109_66027114del | NCBI36 |
| NG_016549.1:g.9573_9578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.343_348del MANE Select | ENSP00000316786.5:p.Glu115_Leu116del | |
| ENST00000326152.5:c.343_348del | ENSP00000316786.5:p.Glu115_Leu116del | |
| ENST00000566606.1:c.321_326del | ENSP00000473429.1:n.321_326del | |
| ENST00000567684.2:n.206_211del | ||
| NM_000196.3:c.343_348del | NP_000187.3:p.Glu115_Leu116del | |
| NM_000196.4:c.343_348del MANE Select | NP_000187.3:p.Glu115_Leu116del |