Linked Data
dbSNP Id:
rs1420650984
gnomAD v2:
11-55579192-AAT-A
gnomAD v3:
11-55811716-AAT-A
gnomAD v4:
11-55811716-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811719_55811720del , CM000673.2:g.55811719_55811720del | GRCh38 |
| NC_000011.9:g.55579195_55579196del , CM000673.1:g.55579195_55579196del | GRCh37 |
| NC_000011.8:g.55335771_55335772del | NCBI36 |
| NG_052620.1:g.5353_5354del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.253_254del MANE Select | ENSP00000485319.1:p.Ile85LeufsTer2 | |
| ENST00000333973.3:c.253_254del | ENSP00000335529.2:p.Ile85LeufsTer2 | |
| ENST00000623450.1:c.253_254del | ENSP00000485509.1:p.Ile85LeufsTer2 | |
| ENST00000625203.1:c.253_254del | ENSP00000485319.1:p.Ile85LeufsTer2 | |
| NM_001004738.1:c.253_254del | NP_001004738.1:p.Ile85LeufsTer2 | |
| NM_001004738.2:c.253_254del MANE Select | NP_001004738.1:p.Ile85LeufsTer2 |