Linked Data
ClinVar Variation Id:
1556459
ClinVar RCV Id:
RCV002187921
dbSNP Id:
rs779261740
ExAC:
7:92126108 GA / G
gnomAD v2:
7-92126108-GA-G
gnomAD v3:
7-92496794-GA-G
gnomAD v4:
7-92496794-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496795del , CM000669.2:g.92496795del | GRCh38 |
| NC_000007.13:g.92126109del , CM000669.1:g.92126109del | GRCh37 |
| NC_000007.12:g.91964045del | NCBI36 |
| NG_008341.1:g.36737del | |
| NG_008341.2:g.36737del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2719-18del MANE Select | ENSP00000248633.4:n.2719-18del | |
| ENST00000248633.8:c.2719-18del | ENSP00000248633.4:n.2719-18del | |
| ENST00000428214.5:c.2548-18del | ENSP00000394413.1:n.2548-18del | |
| ENST00000438045.5:c.1753-18del | ENSP00000410438.1:n.1753-18del | |
| ENST00000484913.5:n.2758-18del | ||
| ENST00000496420.5:n.2611-18del | ||
| NM_000466.2:c.2719-18del | NP_000457.1:n.2719-18del | |
| NM_001282677.1:c.2548-18del | NP_001269606.1:n.2548-18del | |
| NM_001282678.1:c.2095-18del | NP_001269607.1:n.2095-18del | |
| XM_005250433.3:c.970-18del | XP_005250490.1:n.970-18del | |
| XR_242246.3:n.2815-18del | ||
| XM_017012319.2:c.970-18del | XP_016867808.1:n.970-18del | |
| XR_001744808.2:n.1746-18del | ||
| XR_242246.5:n.2766-18del | ||
| NM_000466.3:c.2719-18del MANE Select | NP_000457.1:n.2719-18del | |
| NM_001282677.2:c.2548-18del | NP_001269606.1:n.2548-18del | |
| NM_001282678.2:c.2095-18del | NP_001269607.1:n.2095-18del |