Linked Data
dbSNP Id:
rs771893788
gnomAD v2:
16-88876476-ACCACCAGTGG-A
gnomAD v3:
16-88810068-ACCACCAGTGG-A
gnomAD v4:
16-88810068-ACCACCAGTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810072_88810081del , CM000678.2:g.88810072_88810081del | GRCh38 |
| NC_000016.9:g.88876480_88876489del , CM000678.1:g.88876480_88876489del | GRCh37 |
| NC_000016.8:g.87403981_87403990del | NCBI36 |
| NG_008013.1:g.6857_6866del | |
| NG_028266.1:g.11295_11304del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.392_400+1del | ||
| ENST00000378364.7:c.392_400+1del | ||
| ENST00000426324.6:c.392_400+1del | ||
| ENST00000562464.1:n.402_410+1del | ||
| ENST00000563655.5:c.311_319+1del | ||
| ENST00000567057.5:n.191_199+1del | ||
| ENST00000567391.5:c.*66_*74+1del | ||
| ENST00000567713.5:c.321+345_321+354del | ENSP00000455749.1:n.321+345_321+354del | |
| ENST00000568319.5:c.*66_*74+1del | ||
| ENST00000568575.1:n.321_329+1del | ||
| ENST00000569616.1:c.390_398+1del | ||
| NM_000485.2:c.392_400+1del | ||
| NM_001030018.1:c.392_400+1del | ||
| NM_000485.3:c.392_400+1del | ||
| NM_001030018.2:c.392_400+1del |