Linked Data
ClinVar Variation Id:
446460
ClinVar RCV Id:
RCV000515681
dbSNP Id:
rs1554360816
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701074_107701090del , CM000669.2:g.107701074_107701090del | GRCh38 |
| NC_000007.13:g.107341519_107341535del , CM000669.1:g.107341519_107341535del | GRCh37 |
| NC_000007.12:g.107128755_107128771del | NCBI36 |
| NG_008489.1:g.45440_45456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1708-27_1708-11del MANE Select | ENSP00000494017.1:n.1708-27_1708-11del | |
| ENST00000644846.1:c.419-27_419-11del | ||
| ENST00000265715.7:c.1708-27_1708-11del | ENSP00000265715.3:n.1708-27_1708-11del | |
| ENST00000480841.5:n.557-27_557-11del | ||
| ENST00000492030.2:n.91-753_91-737del | ||
| NM_000441.1:c.1708-27_1708-11del | NP_000432.1:n.1708-27_1708-11del | |
| XM_005250425.1:c.1708-27_1708-11del | XP_005250482.1:n.1708-27_1708-11del | |
| XM_005250425.2:c.1708-27_1708-11del | XP_005250482.1:n.1708-27_1708-11del | |
| XM_017012318.1:c.1630-27_1630-11del | XP_016867807.1:n.1630-27_1630-11del | |
| NM_000441.2:c.1708-27_1708-11del MANE Select | NP_000432.1:n.1708-27_1708-11del |