Linked Data
ClinVar Variation Id:
216965
ClinVar RCV Id:
RCV000196317
dbSNP Id:
rs863224897
gnomAD v4:
15-65003115-GA-G
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65003117del , CM000677.2:g.65003117del | GRCh38 |
| NC_000015.9:g.65295455del , CM000677.1:g.65295455del | GRCh37 |
| NC_000015.8:g.63082508del | NCBI36 |
| NG_029184.1:g.31524del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220058.9:c.1116del MANE Select | ENSP00000220058.4:p.Pro373GlnfsTer19 | |
| ENST00000220058.8:c.1116del | ENSP00000220058.4:p.Pro373GlnfsTer19 | |
| ENST00000558460.5:c.1116del | ENSP00000452646.1:p.Pro373GlnfsTer19 | |
| ENST00000560717.5:c.991del | ENSP00000457257.1:n.991del | |
| NM_139242.3:c.1116del | NP_640335.2:p.Pro373GlnfsTer19 | |
| XM_005254158.3:c.861del | XP_005254215.1:p.Pro288GlnfsTer19 | |
| XM_005254158.5:c.1269del | XP_005254215.2:p.Pro424GlnfsTer19 | |
| NM_139242.4:c.1116del MANE Select | NP_640335.2:p.Pro373GlnfsTer19 |