Linked Data
ClinVar Variation Id:
499105
ClinVar RCV Id:
RCV000597685
dbSNP Id:
rs1555894574
gnomAD v3:
22-37710552-GCCAGGGCCCAAGAGGTGGGTAGAGTC-G
gnomAD v4:
22-37710552-GCCAGGGCCCAAGAGGTGGGTAGAGTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37710563_37710588del , CM000684.2:g.37710563_37710588del | GRCh38 |
| NC_000022.10:g.38106570_38106595del , CM000684.1:g.38106570_38106595del | GRCh37 |
| NC_000022.9:g.36436516_36436541del | NCBI36 |
| NG_012857.1:g.18576_18601del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.251_254+22del | ||
| ENST00000344404.10:c.251_254+22del | ||
| ENST00000406386.7:c.251_254+22del | ||
| ENST00000455236.4:c.1208_1211+22del | ||
| ENST00000492485.5:n.387_390+22del | ||
| NM_001039141.2:c.251_254+22del | ||
| NM_001039141.3:c.251_254+22del |