Linked Data
ClinVar Variation Id:
200883
ClinVar RCV Id:
RCV000182272
dbSNP Id:
rs794728557
gnomAD v4:
11-2572981-GGGGTGGTAAGTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572984_2572995del , CM000673.2:g.2572984_2572995del | GRCh38 |
| NC_000011.9:g.2594214_2594225del , CM000673.1:g.2594214_2594225del | GRCh37 |
| NC_000011.8:g.2550790_2550801del | NCBI36 |
| NG_008935.1:g.132994_133005del , LRG_287:g.132994_133005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.658_660+9del | ||
| ENST00000646564.2:c.478-10451_478-10440del | ENSP00000495806.2:n.478-10451_478-10440del | |
| ENST00000155840.12:c.919_921+9del | ||
| ENST00000335475.6:c.538_540+9del | ||
| ENST00000646564.1:c.124-10451_124-10440del | ENSP00000495806.1:n.124-10451_124-10440del | |
| ENST00000155840.9:c.919_921+9del | ||
| ENST00000335475.5:c.538_540+9del | ||
| NM_000218.2:c.919_921+9del , LRG_287t1:c.919_921+9del | ||
| NM_181798.1:c.538_540+9del , LRG_287t2:c.538_540+9del | ||
| NM_000218.3:c.919_921+9del |