Linked Data
ClinVar Variation Id:
89927
dbSNP Id:
rs267607868
MyVariant Identifiers:
chr3:g.37089175del (hg19)
chr3:g.37089174del (hg19)
chr3:g.37047684del (hg38)
chr3:g.37047683del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37047684del , CM000665.2:g.37047684del | GRCh38 |
| NC_000003.11:g.37089175del , CM000665.1:g.37089175del | GRCh37 |
| NC_000003.10:g.37064179del | NCBI36 |
| NG_007109.2:g.59335del , LRG_216:g.59335del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-2802del | ENSP00000416476.2:n.1668-2802del | |
| ENST00000429117.6:c.1602+1del | ||
| ENST00000450420.6:c.1559-2802del | ENSP00000393006.2:n.1559-2802del | |
| ENST00000456676.7:c.1896+1del | ||
| ENST00000492474.6:c.1173+1del | ||
| ENST00000616768.6:c.1896+1del | ||
| ENST00000673673.2:c.1732-833del | ENSP00000500979.2:n.1732-833del | |
| ENST00000231790.8:c.1896+1del | ||
| ENST00000413212.2:c.*814+1del | ||
| ENST00000432299.6:c.*1728+1del | ||
| ENST00000441265.6:c.*126del | ENSP00000398392.2:n.*126del | |
| ENST00000447829.6:c.*1007+1del | ||
| ENST00000539477.6:c.1173+1del | ||
| ENST00000616768.5:c.933+1del | ||
| ENST00000673673.1:c.1685-833del | ||
| ENST00000673715.1:c.1897del | ENSP00000501301.1:p.Val633CysfsTer14 | |
| ENST00000673741.1:n.930+1del | ||
| ENST00000673889.1:n.1278+1del | ||
| ENST00000673897.1:c.*1688+1del | ||
| ENST00000673899.1:c.1164+1del | ||
| ENST00000673947.1:c.*2036+1del | ||
| ENST00000673972.1:c.*1774+1del | ||
| ENST00000674019.1:c.1173+1del | ||
| ENST00000674111.1:c.*125+1del | ||
| ENST00000674125.1:n.607+1del | ||
| ENST00000231790.6:c.1896+1del | ||
| ENST00000413740.1:c.291-2802del | ENSP00000416476.1:n.291-2802del | |
| ENST00000435176.5:c.1602+1del | ||
| ENST00000450420.5:c.182-2802del | ENSP00000393006.1:n.182-2802del | |
| ENST00000455445.6:c.1173+1del | ||
| ENST00000456676.6:c.1871+1del | ||
| ENST00000458205.6:c.1173+1del | ||
| ENST00000536378.5:c.1173+1del | ||
| ENST00000539477.5:c.1173+1del | ||
| ENST00000616768.4:c.665del | ||
| NM_000249.3:c.1896+1del , LRG_216t1:c.1896+1del | ||
| NM_001167617.1:c.1602+1del | ||
| NM_001167618.1:c.1173+1del | ||
| NM_001167619.1:c.1173+1del | ||
| NM_001258271.1:c.1896+1del | ||
| NM_001258273.1:c.1173+1del | ||
| NM_001258274.1:c.1173+1del | ||
| XM_005265161.1:c.1689+1del | ||
| XM_005265163.1:c.1173+1del | ||
| XM_005265164.1:c.1173+1del | ||
| XM_005265166.1:c.873+1del | ||
| XM_011533727.1:c.822+1del | ||
| NM_001167617.2:c.1602+1del | ||
| NM_001167618.2:c.1173+1del | ||
| NM_001167619.2:c.1173+1del | ||
| NM_001258274.2:c.1173+1del | ||
| NM_001354615.1:c.1173+1del | ||
| NM_001354616.1:c.1173+1del | ||
| NM_001354617.1:c.1173+1del | ||
| NM_001354618.1:c.1173+1del | ||
| NM_001354619.1:c.1173+1del | ||
| NM_001354620.1:c.1602+1del | ||
| NM_001354621.1:c.873+1del | ||
| NM_001354622.1:c.873+1del | ||
| NM_001354623.1:c.873+1del | ||
| NM_001354624.1:c.822+1del | ||
| NM_001354625.1:c.822+1del | ||
| NM_001354626.1:c.822+1del | ||
| NM_001354627.1:c.822+1del | ||
| NM_001354628.1:c.1896+1del | ||
| NM_001354629.1:c.1797+1del | ||
| NM_001354630.1:c.1732-833del | NP_001341559.1:n.1732-833del | |
| XM_005265161.2:c.1689+1del | ||
| XM_017006450.2:c.873+1del | ||
| NM_000249.4:c.1896+1del | ||
| NM_001167617.3:c.1602+1del | ||
| NM_001167618.3:c.1173+1del | ||
| NM_001167619.3:c.1173+1del | ||
| NM_001258271.2:c.1896+1del | ||
| NM_001258273.2:c.1173+1del | ||
| NM_001258274.3:c.1173+1del | ||
| NM_001354615.2:c.1173+1del | ||
| NM_001354616.2:c.1173+1del | ||
| NM_001354617.2:c.1173+1del | ||
| NM_001354618.2:c.1173+1del | ||
| NM_001354619.2:c.1173+1del | ||
| NM_001354620.2:c.1602+1del | ||
| NM_001354621.2:c.873+1del | ||
| NM_001354622.2:c.873+1del | ||
| NM_001354623.2:c.873+1del | ||
| NM_001354624.2:c.822+1del | ||
| NM_001354625.2:c.822+1del | ||
| NM_001354626.2:c.822+1del | ||
| NM_001354627.2:c.822+1del | ||
| NM_001354628.2:c.1896+1del | ||
| NM_001354629.2:c.1797+1del | ||
| NM_001354630.2:c.1732-833del | NP_001341559.1:n.1732-833del |