Linked Data
dbSNP Id:
rs936003506
gnomAD v2:
10-115804765-CCCG-C
gnomAD v3:
10-114045006-CCCG-C
gnomAD v4:
10-114045006-CCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045021_114045023del , CM000672.2:g.114045021_114045023del | GRCh38 |
| NC_000010.10:g.115804780_115804782del , CM000672.1:g.115804780_115804782del | GRCh37 |
| NC_000010.9:g.115794770_115794772del | NCBI36 |
| NG_012187.1:g.5975_5977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.889_891del MANE Select | ENSP00000358301.2:p.Ala297del | |
| ENST00000369295.3:c.889_891del | ENSP00000358301.2:p.Ala297del | |
| NM_000684.2:c.889_891del | NP_000675.1:p.Ala297del | |
| NM_000684.3:c.889_891del MANE Select | NP_000675.1:p.Ala297del |