Linked Data
dbSNP Id:
rs1349073134
gnomAD v3:
11-32417702-ACACAAC-A
gnomAD v4:
11-32417702-ACACAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32417703_32417708del , CM000673.2:g.32417703_32417708del | GRCh38 |
| NC_000011.9:g.32439249_32439254del , CM000673.1:g.32439249_32439254del | GRCh37 |
| NC_000011.8:g.32395825_32395830del | NCBI36 |
| NG_009272.1:g.22834_22839del , LRG_525:g.22834_22839del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.888-54_888-49del | ENSP00000331327.5:n.888-54_888-49del | |
| ENST00000379077.9:c.888-54_888-49del | ENSP00000368368.5:n.888-54_888-49del | |
| ENST00000379079.8:c.237-54_237-49del | ENSP00000368370.2:n.237-54_237-49del | |
| ENST00000448076.9:c.888-54_888-49del | ENSP00000413452.5:n.888-54_888-49del | |
| ENST00000452863.10:c.888-54_888-49del MANE Select | ENSP00000415516.5:n.888-54_888-49del | |
| ENST00000639563.3:c.888-54_888-49del | ENSP00000492269.3:n.888-54_888-49del | |
| ENST00000640146.2:c.264-54_264-49del | ENSP00000491984.2:n.264-54_264-49del | |
| ENST00000332351.7:c.873-54_873-49del | ENSP00000331327.3:n.873-54_873-49del | |
| ENST00000379077.7:c.873-54_873-49del | ENSP00000368368.3:n.873-54_873-49del | |
| ENST00000379079.6:c.237-54_237-49del | ENSP00000368370.2:n.237-54_237-49del | |
| ENST00000448076.7:c.873-54_873-49del | ENSP00000413452.3:n.873-54_873-49del | |
| ENST00000452863.7:c.873-54_873-49del | ENSP00000415516.3:n.873-54_873-49del | |
| ENST00000527775.1:c.126-54_126-49del | ENSP00000435351.1:n.126-54_126-49del | |
| ENST00000530998.5:c.237-54_237-49del | ENSP00000435307.1:n.237-54_237-49del | |
| NM_000378.4:c.873-54_873-49del | NP_000369.3:n.873-54_873-49del | |
| NM_001198551.1:c.237-54_237-49del , LRG_525t2:c.237-54_237-49del | NP_001185480.1:n.237-54_237-49del | |
| NM_001198552.1:c.237-54_237-49del | NP_001185481.1:n.237-54_237-49del | |
| NM_024424.3:c.873-54_873-49del | NP_077742.2:n.873-54_873-49del | |
| NM_024426.4:c.873-54_873-49del | NP_077744.3:n.873-54_873-49del | |
| NM_000378.5:c.888-54_888-49del | NP_000369.4:n.888-54_888-49del | |
| NM_024424.4:c.888-54_888-49del | NP_077742.3:n.888-54_888-49del | |
| NM_024426.5:c.888-54_888-49del | NP_077744.4:n.888-54_888-49del | |
| NR_160306.1:n.1067-54_1067-49del | ||
| NM_000378.6:c.888-54_888-49del | NP_000369.4:n.888-54_888-49del | |
| NM_001198552.2:c.237-54_237-49del | NP_001185481.1:n.237-54_237-49del | |
| NM_024424.5:c.888-54_888-49del | NP_077742.3:n.888-54_888-49del | |
| NM_024426.6:c.888-54_888-49del MANE Select | NP_077744.4:n.888-54_888-49del |