Linked Data
dbSNP Id:
rs753277102
ExAC:
22:37209643 AC / A
gnomAD v2:
22-37209643-AC-A
gnomAD v3:
22-36813599-AC-A
gnomAD v4:
22-36813599-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36813603del , CM000684.2:g.36813603del | GRCh38 |
| NC_000022.10:g.37209647del , CM000684.1:g.37209647del | GRCh37 |
| NC_000022.9:g.35539593del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417718.7:c.304+46del MANE Select | ENSP00000400247.2:n.304+46del | |
| ENST00000216200.9:c.304+46del | ENSP00000216200.5:n.304+46del | |
| ENST00000404171.1:c.208+46del | ENSP00000386089.1:n.208+46del | |
| ENST00000406910.6:c.300+46del | ||
| ENST00000417718.6:c.304+46del | ENSP00000400247.2:n.304+46del | |
| ENST00000467935.1:n.380del | ||
| NM_001315532.1:c.304+46del | NP_001302461.1:n.304+46del | |
| NM_002854.2:c.304+46del | NP_002845.1:n.304+46del | |
| XM_011530288.1:c.304+46del | XP_011528590.1:n.304+46del | |
| NM_001315532.2:c.304+46del MANE Select | NP_001302461.1:n.304+46del | |
| NM_002854.3:c.304+46del | NP_002845.1:n.304+46del |