Linked Data
dbSNP Id:
rs1338253437
gnomAD v3:
12-57133440-AAAGCAGAGGCCCAGAC-A
gnomAD v4:
12-57133440-AAAGCAGAGGCCCAGAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57133441_57133456del , CM000674.2:g.57133441_57133456del | GRCh38 |
| NC_000012.11:g.57527224_57527239del , CM000674.1:g.57527224_57527239del | GRCh37 |
| NC_000012.10:g.55813491_55813506del | NCBI36 |
| NG_016444.1:g.9943_9958del | |
| NG_021272.2:g.3684_3699del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243077.8:c.67+4410_67+4425del MANE Select | ENSP00000243077.3:n.67+4410_67+4425del | |
| ENST00000243077.7:c.67+4410_67+4425del | ENSP00000243077.3:n.67+4410_67+4425del | |
| ENST00000338962.8:c.67+4410_67+4425del | ENSP00000341264.4:n.67+4410_67+4425del | |
| ENST00000553277.5:c.67+4410_67+4425del | ENSP00000451449.1:n.67+4410_67+4425del | |
| ENST00000554174.1:c.67+4410_67+4425del | ENSP00000451737.1:n.67+4410_67+4425del | |
| NM_002332.2:c.67+4410_67+4425del | NP_002323.2:n.67+4410_67+4425del | |
| XM_017019303.1:c.67+4410_67+4425del | XP_016874792.1:n.67+4410_67+4425del | |
| NM_002332.3:c.67+4410_67+4425del MANE Select | NP_002323.2:n.67+4410_67+4425del |