Linked Data
ClinVar Variation Id:
1289814
ClinVar RCV Id:
RCV001714764
dbSNP Id:
rs1250881056
gnomAD v2:
8-103244096-CA-C
gnomAD v3:
8-102231868-CA-C
gnomAD v4:
8-102231868-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102231886del , CM000670.2:g.102231886del | GRCh38 |
| NC_000008.10:g.103244114del , CM000670.1:g.103244114del | GRCh37 |
| NC_000008.9:g.103313290del | NCBI36 |
| NG_016617.1:g.12250del , LRG_788:g.12250del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.204+280del MANE Select | ENSP00000251810.3:n.204+280del | |
| ENST00000251810.7:c.204+280del | ENSP00000251810.3:n.204+280del | |
| ENST00000395912.6:c.49-5835del | ENSP00000379248.2:n.49-5835del | |
| ENST00000517517.1:n.513+280del | ||
| ENST00000519317.5:c.48+6958del | ENSP00000430641.1:n.48+6958del | |
| ENST00000519962.5:c.48+6958del | ENSP00000429140.1:n.48+6958del | |
| ENST00000522368.5:c.373+280del | ||
| ENST00000522394.1:c.122+362del | ENSP00000429578.1:n.122+362del | |
| ENST00000523957.1:c.*127+280del | ENSP00000427830.1:n.*127+280del | |
| ENST00000621845.1:c.42+280del | ENSP00000484318.1:n.42+280del | |
| NM_001172477.1:c.420+280del , LRG_788t1:c.420+280del | NP_001165948.1:n.420+280del | |
| NM_001172478.1:c.49-5835del | NP_001165949.1:n.49-5835del | |
| NM_015713.4:c.204+280del , LRG_788t2:c.204+280del | NP_056528.2:n.204+280del | |
| NM_001172478.2:c.49-5835del | NP_001165949.1:n.49-5835del | |
| NM_015713.5:c.204+280del MANE Select | NP_056528.2:n.204+280del |