Linked Data
dbSNP Id:
rs1421797067
gnomAD v2:
11-67352563-ATCAGGCGCCCAG-A
gnomAD v4:
11-67585092-ATCAGGCGCCCAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585096_67585107del , CM000673.2:g.67585096_67585107del | GRCh38 |
| NC_000011.9:g.67352567_67352578del , CM000673.1:g.67352567_67352578del | GRCh37 |
| NC_000011.8:g.67109143_67109154del | NCBI36 |
| NG_012075.1:g.6502_6513del , LRG_723:g.6502_6513del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.233-42_233-31del | ENSP00000381604.1:n.233-42_233-31del | |
| ENST00000398606.10:c.233-42_233-31del MANE Select | ENSP00000381607.3:n.233-42_233-31del | |
| ENST00000646888.1:c.126-42_126-31del | ENSP00000494477.1:n.126-42_126-31del | |
| ENST00000398603.5:c.233-42_233-31del | ENSP00000381604.1:n.233-42_233-31del | |
| ENST00000398606.7:c.233-42_233-31del | ENSP00000381607.3:n.233-42_233-31del | |
| ENST00000467591.1:n.302_313del | ||
| ENST00000494593.1:n.986_997del | ||
| ENST00000498765.5:c.254_265del | ||
| NM_000852.3:c.233-42_233-31del , LRG_723t1:c.233-42_233-31del | NP_000843.1:n.233-42_233-31del | |
| NM_000852.4:c.233-42_233-31del MANE Select | NP_000843.1:n.233-42_233-31del |