Linked Data
dbSNP Id:
rs754665899
gnomAD v2:
8-110109772-CAT-C
gnomAD v3:
8-109097543-CAT-C
gnomAD v4:
8-109097543-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.109097545_109097546del , CM000670.2:g.109097545_109097546del | GRCh38 |
| NC_000008.10:g.110109774_110109775del , CM000670.1:g.110109774_110109775del | GRCh37 |
| NC_000008.9:g.110178950_110178951del | NCBI36 |
| NG_017161.1:g.15099_15100del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518632.2:c.789+9244_789+9245del MANE Select | ENSP00000430711.2:n.789+9244_789+9245del | |
| ENST00000311762.2:c.789+9244_789+9245del | ENSP00000309818.2:n.789+9244_789+9245del | |
| ENST00000518632.1:c.789+9244_789+9245del | ENSP00000430711.1:n.789+9244_789+9245del | |
| NM_003301.5:c.789+9244_789+9245del | NP_003292.1:n.789+9244_789+9245del | |
| XM_011517263.1:c.789+9244_789+9245del | XP_011515565.1:n.789+9244_789+9245del | |
| XM_011517263.2:c.789+9244_789+9245del | XP_011515565.1:n.789+9244_789+9245del | |
| NM_003301.7:c.789+9244_789+9245del MANE Select | NP_003292.1:n.789+9244_789+9245del |