Linked Data
ClinVar Variation Id:
798515
ClinVar RCV Id:
RCV000982061
dbSNP Id:
rs1462836154
gnomAD v2:
7-107557702-TTGATTTCTG-T
gnomAD v4:
7-107917257-TTGATTTCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107917260_107917268del , CM000669.2:g.107917260_107917268del | GRCh38 |
| NC_000007.13:g.107557705_107557713del , CM000669.1:g.107557705_107557713del | GRCh37 |
| NC_000007.12:g.107344941_107344949del | NCBI36 |
| NG_008045.1:g.31120_31128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1047-13_1047-5del MANE Select | ENSP00000205402.3:n.1047-13_1047-5del | |
| ENST00000205402.9:c.1047-13_1047-5del | ENSP00000205402.3:n.1047-13_1047-5del | |
| ENST00000415325.5:c.*721-13_*721-5del | ENSP00000402593.1:n.*721-13_*721-5del | |
| ENST00000417551.5:c.1047-13_1047-5del | ENSP00000390667.1:n.1047-13_1047-5del | |
| ENST00000437604.6:c.903-13_903-5del | ENSP00000387542.2:n.903-13_903-5del | |
| ENST00000440410.5:c.978-13_978-5del | ENSP00000417016.1:n.978-13_978-5del | |
| NM_000108.4:c.1047-13_1047-5del | NP_000099.2:n.1047-13_1047-5del | |
| NM_001289750.1:c.750-13_750-5del | NP_001276679.1:n.750-13_750-5del | |
| NM_001289751.1:c.978-13_978-5del | NP_001276680.1:n.978-13_978-5del | |
| NM_001289752.1:c.903-13_903-5del | NP_001276681.1:n.903-13_903-5del | |
| NM_000108.5:c.1047-13_1047-5del MANE Select | NP_000099.2:n.1047-13_1047-5del |