Linked Data
ClinVar Variation Id:
1085769
ClinVar RCV Id:
RCV001403288
dbSNP Id:
rs398124201
gnomAD v4:
14-28767485-CGCAGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767494_28767499del , CM000676.2:g.28767494_28767499del | GRCh38 |
| NC_000014.8:g.29236700_29236705del , CM000676.1:g.29236700_29236705del | GRCh37 |
| NC_000014.7:g.28306451_28306456del | NCBI36 |
| NG_009367.1:g.5414_5419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.215_220del | ENSP00000516406.1:p.Gln72_Gln73del | |
| ENST00000313071.7:c.215_220del MANE Select | ENSP00000339004.3:p.Gln72_Gln73del | |
| ENST00000313071.6:c.215_220del | ENSP00000339004.3:p.Gln72_Gln73del | |
| NM_005249.4:c.215_220del | NP_005240.3:p.Gln72_Gln73del | |
| NM_005249.5:c.215_220del MANE Select | NP_005240.3:p.Gln72_Gln73del |