Linked Data
dbSNP Id:
rs1385545577
gnomAD v3:
18-31524595-ATTCTTC-A
gnomAD v4:
18-31524595-ATTCTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524597_31524602del , CM000680.2:g.31524597_31524602del | GRCh38 |
| NC_000018.9:g.29104560_29104565del , CM000680.1:g.29104560_29104565del | GRCh37 |
| NC_000018.8:g.27358558_27358563del | NCBI36 |
| NG_007072.3:g.31356_31361del , LRG_397:g.31356_31361del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.659+12_659+17del | ||
| ENST00000683614.2:n.659+12_659+17del | ||
| ENST00000682087.1:c.659+12_659+17del | ||
| ENST00000683614.1:c.659+12_659+17del | ||
| ENST00000261590.13:c.828+12_828+17del MANE Select | ENSP00000261590.8:n.828+12_828+17del | |
| ENST00000261590.12:c.828+12_828+17del | ENSP00000261590.8:n.828+12_828+17del | |
| NM_001943.3:c.828+12_828+17del , LRG_397t1:c.828+12_828+17del | NP_001934.2:n.828+12_828+17del | |
| NM_001943.4:c.828+12_828+17del | NP_001934.2:n.828+12_828+17del | |
| XM_024451095.1:c.294+12_294+17del | XP_024306863.1:n.294+12_294+17del | |
| NM_001943.5:c.828+12_828+17del MANE Select | NP_001934.2:n.828+12_828+17del |