Linked Data
dbSNP Id:
rs2126504531
gnomAD v3:
5-1213395-C-CCCCGCCCCCAT
gnomAD v4:
5-1213395-C-CCCCGCCCCCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213395_1213396insCCCGCCCCCAT , CM000667.2:g.1213395_1213396insCCCGCCCCCAT | GRCh38 |
| NC_000005.9:g.1213510_1213511insCCCGCCCCCAT , CM000667.1:g.1213510_1213511insCCCGCCCCCAT | GRCh37 |
| NC_000005.8:g.1266510_1266511insCCCGCCCCCAT | NCBI36 |
| NG_008282.1:g.16801_16802insCCCGCCCCCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-68_664-67insCCCGCCCCCAT MANE Select | ENSP00000305302.10:n.664-68_664-67insCCCGCCCCCAT | |
| ENST00000304460.10:c.664-68_664-67insCCCGCCCCCAT | ENSP00000305302.10:n.664-68_664-67insCCCGCCCCCAT | |
| ENST00000515652.5:c.572-68_572-67insCCCGCCCCCAT | ENSP00000425701.1:n.572-68_572-67insCCCGCCCCCAT | |
| NM_001003841.2:c.664-68_664-67insCCCGCCCCCAT | NP_001003841.1:n.664-68_664-67insCCCGCCCCCAT | |
| NM_001003841.3:c.664-68_664-67insCCCGCCCCCAT MANE Select | NP_001003841.1:n.664-68_664-67insCCCGCCCCCAT |