Linked Data
ClinVar Variation Id:
21252
dbSNP Id:
rs80359858
ExAC:
8:27637782 CAAGT / C
gnomAD v2:
8-27637782-CAAGT-C
gnomAD v3:
8-27780265-CAAGT-C
gnomAD v4:
8-27780265-CAAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27780269_27780272del , CM000670.2:g.27780269_27780272del | GRCh38 |
| NC_000008.10:g.27637786_27637789del , CM000670.1:g.27637786_27637789del | GRCh37 |
| NC_000008.9:g.27693705_27693708del | NCBI36 |
| NG_008117.1:g.10729_10732del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305188.13:c.955+2_955+5del | ||
| ENST00000305188.12:c.955+2_955+5del | ||
| ENST00000518262.5:c.69+2_69+5del | ||
| ENST00000522378.5:c.861+3100_861+3103del | ENSP00000428928.1:n.861+3100_861+3103del | |
| NM_001017420.2:c.955+2_955+5del | ||
| XM_011544421.1:c.955+2_955+5del | ||
| XM_011544422.1:c.955+2_955+5del | ||
| XR_949378.1:n.1039+2_1039+5del | ||
| XR_949379.1:n.1039+2_1039+5del | ||
| XM_011544421.2:c.955+2_955+5del | ||
| XM_011544422.2:c.955+2_955+5del | ||
| XR_949378.3:n.1039+2_1039+5del | ||
| NM_001017420.3:c.955+2_955+5del |