Linked Data
ClinVar Variation Id:
1178109
ClinVar RCV Id:
RCV001534325
dbSNP Id:
rs151335194
ExAC:
17:42988562 GGCA / G
gnomAD v2:
17-42988562-GGCA-G
gnomAD v3:
17-44911194-GGCA-G
gnomAD v4:
17-44911194-GGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911199_44911201del , CM000679.2:g.44911199_44911201del | GRCh38 |
| NC_000017.10:g.42988567_42988569del , CM000679.1:g.42988567_42988569del | GRCh37 |
| NC_000017.9:g.40344093_40344095del | NCBI36 |
| NG_008401.1:g.9350_9352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1127+39_1127+41del | ENSP00000253408.5:n.1127+39_1127+41del | |
| ENST00000435360.8:c.1127+39_1127+41del | ENSP00000403962.1:n.1127+39_1127+41del | |
| ENST00000253408.10:c.1127+39_1127+41del | ENSP00000253408.5:n.1127+39_1127+41del | |
| ENST00000435360.7:c.1127+39_1127+41del | ENSP00000403962.1:n.1127+39_1127+41del | |
| ENST00000585543.6:n.280+39_280+41del | ||
| ENST00000586125.2:c.62+39_62+41del | ENSP00000467397.2:n.62+39_62+41del | |
| ENST00000586127.6:n.1656+39_1656+41del | ||
| ENST00000586793.6:c.992+39_992+41del | ENSP00000468500.2:n.992+39_992+41del | |
| ENST00000587997.6:n.603+39_603+41del | ||
| ENST00000588735.3:c.1127+39_1127+41del MANE Select | ENSP00000466598.2:n.1127+39_1127+41del | |
| ENST00000591327.2:n.2281+39_2281+41del | ||
| ENST00000591880.2:c.57+39_57+41del | ||
| ENST00000592320.6:c.704+39_704+41del | ENSP00000465320.1:n.704+39_704+41del | |
| ENST00000638281.1:c.1127+39_1127+41del | ENSP00000491088.1:n.1127+39_1127+41del | |
| ENST00000638304.1:c.46+39_46+41del | ||
| ENST00000638488.1:n.68+39_68+41del | ||
| ENST00000638618.1:c.782+39_782+41del | ENSP00000492832.1:n.782+39_782+41del | |
| ENST00000639042.1:c.64+39_64+41del | ||
| ENST00000639277.1:c.1127+39_1127+41del | ENSP00000492432.1:n.1127+39_1127+41del | |
| ENST00000639921.1:c.84+39_84+41del | ||
| ENST00000640552.1:n.1141+39_1141+41del | ||
| ENST00000253408.9:c.1127+39_1127+41del | ENSP00000253408.4:n.1127+39_1127+41del | |
| ENST00000435360.6:c.1127+39_1127+41del | ENSP00000403962.1:n.1127+39_1127+41del | |
| ENST00000585543.5:n.280+39_280+41del | ||
| ENST00000586793.5:c.1127+39_1127+41del | ENSP00000468500.1:n.1127+39_1127+41del | |
| ENST00000588640.5:n.507+39_507+41del | ||
| ENST00000588735.1:c.83-3081_83-3079del | ENSP00000466598.1:n.83-3081_83-3079del | |
| ENST00000592320.5:c.704+39_704+41del | ENSP00000465320.1:n.704+39_704+41del | |
| NM_001131019.2:c.1127+39_1127+41del | NP_001124491.1:n.1127+39_1127+41del | |
| NM_001242376.1:c.1127+39_1127+41del | NP_001229305.1:n.1127+39_1127+41del | |
| NM_002055.4:c.1127+39_1127+41del | NP_002046.1:n.1127+39_1127+41del | |
| NM_001363846.1:c.1127+39_1127+41del | NP_001350775.1:n.1127+39_1127+41del | |
| XM_024450690.1:c.1331+39_1331+41del | XP_024306458.1:n.1331+39_1331+41del | |
| XM_024450691.1:c.1331+39_1331+41del | XP_024306459.1:n.1331+39_1331+41del | |
| XM_024450692.1:c.1331+39_1331+41del | XP_024306460.1:n.1331+39_1331+41del | |
| XM_024450693.1:c.1331+39_1331+41del | XP_024306461.1:n.1331+39_1331+41del | |
| NM_002055.5:c.1127+39_1127+41del MANE Select | NP_002046.1:n.1127+39_1127+41del | |
| NM_001131019.3:c.1127+39_1127+41del | NP_001124491.1:n.1127+39_1127+41del | |
| NM_001242376.2:c.1127+39_1127+41del | NP_001229305.1:n.1127+39_1127+41del | |
| NM_001242376.3:c.1127+39_1127+41del | NP_001229305.1:n.1127+39_1127+41del | |
| NM_001363846.2:c.1127+39_1127+41del | NP_001350775.1:n.1127+39_1127+41del |