Linked Data
dbSNP Id:
rs1935944525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945749_138945757del , CM000665.2:g.138945749_138945757del | GRCh38 |
| NC_000003.11:g.138664591_138664599del , CM000665.1:g.138664591_138664599del | GRCh37 |
| NC_000003.10:g.140147281_140147289del | NCBI36 |
| NG_012454.1:g.6390_6398del | |
| NG_029796.1:g.3516_3524del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.972_980del MANE Select | ENSP00000497217.1:p.Ala325_Pro327del | |
| ENST00000330315.3:c.972_980del | ENSP00000333188.3:p.Ala325_Pro327del | |
| NM_023067.3:c.972_980del | NP_075555.1:p.Ala325_Pro327del | |
| NM_023067.4:c.972_980del MANE Select | NP_075555.1:p.Ala325_Pro327del |