Linked Data
dbSNP Id:
rs926787864
gnomAD v2:
22-36678212-AAGGGGCAG-A
gnomAD v3:
22-36282166-AAGGGGCAG-A
gnomAD v4:
22-36282166-AAGGGGCAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36282170_36282177del , CM000684.2:g.36282170_36282177del | GRCh38 |
| NC_000022.10:g.36678216_36678223del , CM000684.1:g.36678216_36678223del | GRCh37 |
| NC_000022.9:g.35008162_35008169del | NCBI36 |
| NG_011884.2:g.110845_110852del , LRG_567:g.110845_110852del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.2810_2817del | ||
| ENST00000685801.1:c.*494_*501del | ENSP00000510688.1:n.*494_*501del | |
| ENST00000690244.1:n.1713_1720del | ||
| ENST00000691109.1:n.6672_6679del | ||
| ENST00000216181.11:c.*494_*501del MANE Select | ENSP00000216181.6:n.*494_*501del | |
| ENST00000216181.9:c.*494_*501del | ENSP00000216181.5:n.*494_*501del | |
| NM_002473.5:c.*494_*501del , LRG_567t1:c.*494_*501del | NP_002464.1:n.*494_*501del | |
| XM_011530197.1:c.*494_*501del | XP_011528499.1:n.*494_*501del | |
| XM_011530197.2:c.*494_*501del | XP_011528499.1:n.*494_*501del | |
| XM_017028803.1:c.*494_*501del | XP_016884292.1:n.*494_*501del | |
| XM_017028804.1:c.*494_*501del | XP_016884293.1:n.*494_*501del | |
| XM_017028805.1:c.*494_*501del | XP_016884294.1:n.*494_*501del | |
| XM_017028806.1:c.*494_*501del | XP_016884295.1:n.*494_*501del | |
| NM_002473.6:c.*494_*501del MANE Select | NP_002464.1:n.*494_*501del |