Linked Data
dbSNP Id:
rs112426777
ExAC:
2:15564643 CAT / C
gnomAD v2:
2-15564643-CAT-C
gnomAD v3:
2-15424519-CAT-C
gnomAD v4:
2-15424519-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15424523_15424524del , CM000664.2:g.15424523_15424524del | GRCh38 |
| NC_000002.11:g.15564647_15564648del , CM000664.1:g.15564647_15564648del | GRCh37 |
| NC_000002.10:g.15482098_15482099del | NCBI36 |
| NG_032964.1:g.141828_141829del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.521-53_521-52del | ||
| ENST00000700062.1:c.521-53_521-52del | ||
| ENST00000700065.1:n.2437-53_2437-52del | ||
| ENST00000700066.1:c.1941-53_1941-52del | ENSP00000514780.1:n.1941-53_1941-52del | |
| ENST00000281513.10:c.2424-53_2424-52del MANE Select | ENSP00000281513.5:n.2424-53_2424-52del | |
| ENST00000281513.9:c.2424-53_2424-52del | ENSP00000281513.5:n.2424-53_2424-52del | |
| NM_015909.3:c.2424-53_2424-52del | NP_056993.2:n.2424-53_2424-52del | |
| NR_052013.2:n.2468-53_2468-52del | ||
| XM_011510357.1:c.2295-53_2295-52del | XP_011508659.1:n.2295-53_2295-52del | |
| XM_011510358.1:c.2424-53_2424-52del | XP_011508660.1:n.2424-53_2424-52del | |
| XM_011510359.1:c.1785-53_1785-52del | XP_011508661.1:n.1785-53_1785-52del | |
| XM_011510360.1:c.225-53_225-52del | XP_011508662.1:n.225-53_225-52del | |
| XM_011510361.1:c.216-53_216-52del | XP_011508663.1:n.216-53_216-52del | |
| XM_011510357.2:c.2295-53_2295-52del | XP_011508659.1:n.2295-53_2295-52del | |
| XM_011510358.2:c.2424-53_2424-52del | XP_011508660.1:n.2424-53_2424-52del | |
| XM_011510360.2:c.225-53_225-52del | XP_011508662.1:n.225-53_225-52del | |
| XM_011510361.2:c.216-53_216-52del | XP_011508663.1:n.216-53_216-52del | |
| XM_017004317.1:c.2424-53_2424-52del | XP_016859806.1:n.2424-53_2424-52del | |
| XM_024452961.1:c.1785-53_1785-52del | XP_024308729.1:n.1785-53_1785-52del | |
| NM_015909.4:c.2424-53_2424-52del MANE Select | NP_056993.2:n.2424-53_2424-52del | |
| NR_052013.3:n.2454-53_2454-52del |