Linked Data
ClinVar Variation Id:
2816954
ClinVar RCV Id:
RCV003630375
dbSNP Id:
rs1371904113
gnomAD v2:
14-29236915-GAGA-G
gnomAD v3:
14-28767709-GAGA-G
gnomAD v4:
14-28767709-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767712_28767714del , CM000676.2:g.28767712_28767714del | GRCh38 |
| NC_000014.8:g.29236918_29236920del , CM000676.1:g.29236918_29236920del | GRCh37 |
| NC_000014.7:g.28306669_28306671del | NCBI36 |
| NG_009367.1:g.5632_5634del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.433_435del | ENSP00000516406.1:p.Lys145del | |
| ENST00000313071.7:c.433_435del MANE Select | ENSP00000339004.3:p.Lys145del | |
| ENST00000313071.6:c.433_435del | ENSP00000339004.3:p.Lys145del | |
| NM_005249.4:c.433_435del | NP_005240.3:p.Lys145del | |
| NM_005249.5:c.433_435del MANE Select | NP_005240.3:p.Lys145del |