Linked Data
ClinVar Variation Id:
1542800
ClinVar RCV Id:
RCV002167524
dbSNP Id:
rs1368208385
gnomAD v2:
10-12149872-CGTAGAGCTCTTACTCCCCACGTG-C
gnomAD v3:
10-12107873-CGTAGAGCTCTTACTCCCCACGTG-C
gnomAD v4:
10-12107873-CGTAGAGCTCTTACTCCCCACGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12107877_12107899del , CM000672.2:g.12107877_12107899del | GRCh38 |
| NC_000010.10:g.12149876_12149898del , CM000672.1:g.12149876_12149898del | GRCh37 |
| NC_000010.9:g.12189882_12189904del | NCBI36 |
| NG_033248.1:g.43961_43983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2048-32_2048-10del MANE Select | ENSP00000263035.4:n.2048-32_2048-10del | |
| ENST00000263035.8:c.2048-32_2048-10del | ENSP00000263035.4:n.2048-32_2048-10del | |
| ENST00000448829.1:c.551-32_551-10del | ||
| NM_018706.6:c.2048-32_2048-10del | NP_061176.3:n.2048-32_2048-10del | |
| NM_018706.7:c.2048-32_2048-10del MANE Select | NP_061176.4:n.2048-32_2048-10del |