Linked Data
dbSNP Id:
rs1463441060
gnomAD v2:
6-24503331-CT-C
gnomAD v3:
6-24503103-CT-C
gnomAD v4:
6-24503103-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503108del , CM000668.2:g.24503108del | GRCh38 |
| NC_000006.11:g.24503336del , CM000668.1:g.24503336del | GRCh37 |
| NC_000006.10:g.24611315del | NCBI36 |
| NG_008161.1:g.13140del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.439-155del MANE Select | ENSP00000350191.3:n.439-155del | |
| ENST00000672352.1:c.202-155del | ENSP00000500876.1:n.202-155del | |
| ENST00000672557.1:c.357-155del | ||
| ENST00000672652.1:c.360-155del | ||
| ENST00000675422.1:n.1199-155del | ||
| ENST00000348925.2:c.439-155del | ENSP00000314649.3:n.439-155del | |
| ENST00000357578.7:c.439-155del | ENSP00000350191.3:n.439-155del | |
| ENST00000491546.5:c.355-155del | ENSP00000417687.1:n.355-155del | |
| NM_001080.3:c.439-155del MANE Select | NP_001071.1:n.439-155del | |
| NM_170740.1:c.439-155del | NP_733936.1:n.439-155del | |
| NM_001368954.1:c.439-155del | NP_001355883.1:n.439-155del |