Linked Data
ClinVar Variation Id:
2865044
ClinVar RCV Id:
RCV003697589
dbSNP Id:
rs749838624
ExAC:
7:107412571 AT / A
gnomAD v2:
7-107412571-AT-A
gnomAD v4:
7-107772126-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107772127del , CM000669.2:g.107772127del | GRCh38 |
| NC_000007.13:g.107412572del , CM000669.1:g.107412572del | GRCh37 |
| NC_000007.12:g.107199808del | NCBI36 |
| NG_008046.1:g.36107del , LRG_683:g.36107del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.2008-19del MANE Select | ENSP00000345873.5:n.2008-19del | |
| ENST00000340010.9:c.2008-19del | ENSP00000345873.5:n.2008-19del | |
| ENST00000379083.7:c.*1565-19del | ENSP00000368375.3:n.*1565-19del | |
| NM_000111.2:c.2008-19del , LRG_683t1:c.2008-19del | NP_000102.1:n.2008-19del | |
| XM_011515867.1:c.2008-19del | XP_011514169.1:n.2008-19del | |
| NM_000111.3:c.2008-19del MANE Select | NP_000102.1:n.2008-19del |