Linked Data
ClinVar Variation Id:
558080
ClinVar RCV Id:
RCV000674302
dbSNP Id:
rs1554373613
MyVariant Identifiers:
chr7:g.92510996_92511001del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511004_92511009del , CM000669.2:g.92511004_92511009del | GRCh38 |
| NC_000007.13:g.92140318_92140323del , CM000669.1:g.92140318_92140323del | GRCh37 |
| NC_000007.12:g.91978254_91978259del | NCBI36 |
| NG_008341.1:g.22531_22536del | |
| NG_008341.2:g.22531_22536del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1530_1535del MANE Select | ENSP00000248633.4:p.Glu510_Lys511del | |
| ENST00000248633.8:c.1530_1535del | ENSP00000248633.4:p.Glu510_Lys511del | |
| ENST00000422866.1:c.431_436del | ||
| ENST00000428214.5:c.1530_1535del | ENSP00000394413.1:p.Glu510_Lys511del | |
| ENST00000438045.5:c.564_569del | ENSP00000410438.1:p.Glu188_Lys189del | |
| ENST00000476923.1:n.291_296del | ||
| ENST00000484913.5:n.1569_1574del | ||
| NM_000466.2:c.1530_1535del | NP_000457.1:p.Glu510_Lys511del | |
| NM_001282677.1:c.1530_1535del | NP_001269606.1:p.Glu510_Lys511del | |
| NM_001282678.1:c.906_911del | NP_001269607.1:p.Glu302_Lys303del | |
| XM_005250433.3:c.-137_-132del | XP_005250490.1:n.-137_-132del | |
| XR_242246.3:n.1626_1631del | ||
| XM_017012319.2:c.-137_-132del | XP_016867808.1:n.-137_-132del | |
| XR_001744808.2:n.640_645del | ||
| XR_242246.5:n.1577_1582del | ||
| NM_000466.3:c.1530_1535del MANE Select | NP_000457.1:p.Glu510_Lys511del | |
| NM_001282677.2:c.1530_1535del | NP_001269606.1:p.Glu510_Lys511del | |
| NM_001282678.2:c.906_911del | NP_001269607.1:p.Glu302_Lys303del |