Linked Data
ClinVar Variation Id:
540220
ClinVar RCV Id:
RCV000650178
dbSNP Id:
rs1470521514
gnomAD v3:
X-25013653-GGCCGCTGCCGCCGCCGCCGCC-G
gnomAD v4:
X-25013653-GGCCGCTGCCGCCGCCGCCGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013659_25013679del , CM000685.2:g.25013659_25013679del | GRCh38 |
| NC_000023.10:g.25031776_25031796del , CM000685.1:g.25031776_25031796del | GRCh37 |
| NC_000023.9:g.24941697_24941717del | NCBI36 |
| NG_008281.1:g.7275_7295del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.321_341del MANE Select | ENSP00000368332.4:p.Ala108_Ala114del | |
| ENST00000379044.4:c.321_341del | ENSP00000368332.4:p.Ala108_Ala114del | |
| NM_139058.2:c.321_341del | NP_620689.1:p.Ala108_Ala114del | |
| NM_139058.3:c.321_341del MANE Select | NP_620689.1:p.Ala108_Ala114del |