Linked Data
ClinVar Variation Id:
90028
ClinVar RCV Id:
RCV000075513
MyVariant Identifiers:
chr3:g.37040732_37043185delinsACATAGTA (hg19)
chr3:g.36999241_37001694delinsACATAGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36999241_37001694delinsACATAGTA , CM000665.2:g.36999241_37001694delinsACATAGTA | GRCh38 |
| NC_000003.11:g.37040732_37043185delinsACATAGTA , CM000665.1:g.37040732_37043185delinsACATAGTA | GRCh37 |
| NC_000003.10:g.37015736_37018189delinsACATAGTA | NCBI36 |
| NG_007109.2:g.10892_13345delinsACATAGTA , LRG_216:g.10892_13345delinsACATAGTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000429117.6:c.-82-1714_12+646delinsACATAGTA | ||
| ENST00000450420.6:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000456676.7:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000458009.6:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000492474.6:c.-516-1714_-418+641delinsACATAGTA | ||
| ENST00000616768.6:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000673673.2:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000231790.8:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000413212.2:c.-516-1714_-418+641delinsACATAGTA | ||
| ENST00000432299.6:c.*288-1714_*386+641delinsACATAGTA | ||
| ENST00000441265.6:c.-516-1714_-418+641delinsACATAGTA | ||
| ENST00000442249.6:n.223-1714_321+641delinsACATAGTA | ||
| ENST00000447829.6:c.-82-1714_17+641delinsACATAGTA | ||
| ENST00000539477.6:c.-424-1714_-326+641delinsACATAGTA | ||
| ENST00000673673.1:c.161-1714_259+641delinsACATAGTA | ||
| ENST00000673713.1:n.239-1714_337+641delinsACATAGTA | ||
| ENST00000673715.1:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000673897.1:c.117-1714_*98+641delinsACATAGTA | ||
| ENST00000673899.1:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000673947.1:c.*348-1714_*446+641delinsACATAGTA | ||
| ENST00000673972.1:c.*86-1714_*184+641delinsACATAGTA | ||
| ENST00000673990.1:n.193-1714_291+641delinsACATAGTA | ||
| ENST00000674019.1:c.-516-1714_-418+641delinsACATAGTA | ||
| ENST00000674107.1:n.150-1714_248+641delinsACATAGTA | ||
| ENST00000674111.1:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000231790.6:c.208-1714_306+641delinsACATAGTA | ||
| ENST00000429117.5:c.-82-1714_12+646delinsACATAGTA | ||
| ENST00000432299.5:c.*288-1714_*386+641delinsACATAGTA | ||
| ENST00000435176.5:c.-82-1714_12+646delinsACATAGTA | ||
| ENST00000441265.5:c.-424-1714_-326+641delinsACATAGTA | ||
| ENST00000442249.5:c.117-1714_*98+641delinsACATAGTA | ||
| ENST00000454028.5:c.*86-1714_*179+646delinsACATAGTA | ||
| ENST00000455445.6:c.-516-1714_-418+641delinsACATAGTA | ||
| ENST00000456676.6:c.183-1714_281+641delinsACATAGTA | ||
| ENST00000457004.5:c.*85+2532_*86-2707delinsACATAGTA | ENSP00000407773.1:n.*85+2532_*86-2707deli... | |
| ENST00000458205.6:c.-516-1714_-418+641delinsACATAGTA | ||
| ENST00000466900.5:n.135-1714_233+641delinsACATAGTA | ||
| ENST00000485889.1:n.212-1714_310+641delinsACATAGTA | ||
| ENST00000492474.5:n.231-1714_329+641delinsACATAGTA | ||
| ENST00000536378.5:c.-516-1714_-418+641delinsACATAGTA | ||
| ENST00000539477.5:c.-424-1714_-326+641delinsACATAGTA | ||
| NM_000249.3:c.208-1714_306+641delinsACATAGTA , LRG_216t1:c.208-1714_306+641delinsACATAGTA | ||
| NM_001167617.1:c.-82-1714_12+646delinsACATAGTA | ||
| NM_001167618.1:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001167619.1:c.-424-1714_-326+641delinsACATAGTA | ||
| NM_001258271.1:c.208-1714_306+641delinsACATAGTA | ||
| NM_001258273.1:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001258274.1:c.-516-1714_-418+641delinsACATAGTA | ||
| XM_005265161.1:c.208-1714_306+641delinsACATAGTA | ||
| XM_005265163.1:c.-516-1714_-418+641delinsACATAGTA | ||
| XM_005265164.1:c.-516-1714_-418+641delinsACATAGTA | ||
| XM_005265166.1:c.-722-1714_-624+641delinsACATAGTA | ||
| XM_011533727.1:c.-619-1714_-521+641delinsACATAGTA | ||
| NM_001167617.2:c.-82-1714_12+646delinsACATAGTA | ||
| NM_001167618.2:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001167619.2:c.-424-1714_-326+641delinsACATAGTA | ||
| NM_001258274.2:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001354615.1:c.-419-1714_-326+646delinsACATAGTA | ||
| NM_001354616.1:c.-424-1714_-326+641delinsACATAGTA | ||
| NM_001354617.1:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001354618.1:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001354619.1:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001354620.1:c.-82-1714_12+646delinsACATAGTA | ||
| NM_001354621.1:c.-609-1714_-511+641delinsACATAGTA | ||
| NM_001354622.1:c.-722-1714_-624+641delinsACATAGTA | ||
| NM_001354623.1:c.-722-1714_-624+641delinsACATAGTA | ||
| NM_001354624.1:c.-619-1714_-521+641delinsACATAGTA | ||
| NM_001354625.1:c.-522-1714_-429+646delinsACATAGTA | ||
| NM_001354626.1:c.-619-1714_-521+641delinsACATAGTA | ||
| NM_001354627.1:c.-619-1714_-521+641delinsACATAGTA | ||
| NM_001354628.1:c.208-1714_306+641delinsACATAGTA | ||
| NM_001354629.1:c.207+2532_208-2707delinsACATAGTA | NP_001341558.1:n.207+2532_208-2707delinsA... | |
| NM_001354630.1:c.208-1714_306+641delinsACATAGTA | ||
| XM_005265161.2:c.208-1714_306+641delinsACATAGTA | ||
| XM_017006450.2:c.-609-1714_-511+641delinsACATAGTA | ||
| NM_000249.4:c.208-1714_306+641delinsACATAGTA | ||
| NM_001167617.3:c.-82-1714_12+646delinsACATAGTA | ||
| NM_001167618.3:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001167619.3:c.-424-1714_-326+641delinsACATAGTA | ||
| NM_001258271.2:c.208-1714_306+641delinsACATAGTA | ||
| NM_001258273.2:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001258274.3:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001354615.2:c.-419-1714_-326+646delinsACATAGTA | ||
| NM_001354616.2:c.-424-1714_-326+641delinsACATAGTA | ||
| NM_001354617.2:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001354618.2:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001354619.2:c.-516-1714_-418+641delinsACATAGTA | ||
| NM_001354620.2:c.-82-1714_12+646delinsACATAGTA | ||
| NM_001354621.2:c.-609-1714_-511+641delinsACATAGTA | ||
| NM_001354622.2:c.-722-1714_-624+641delinsACATAGTA | ||
| NM_001354623.2:c.-722-1714_-624+641delinsACATAGTA | ||
| NM_001354624.2:c.-619-1714_-521+641delinsACATAGTA | ||
| NM_001354625.2:c.-522-1714_-429+646delinsACATAGTA | ||
| NM_001354626.2:c.-619-1714_-521+641delinsACATAGTA | ||
| NM_001354627.2:c.-619-1714_-521+641delinsACATAGTA | ||
| NM_001354628.2:c.208-1714_306+641delinsACATAGTA | ||
| NM_001354629.2:c.207+2532_208-2707delinsACATAGTA | NP_001341558.1:n.207+2532_208-2707delinsA... | |
| NM_001354630.2:c.208-1714_306+641delinsACATAGTA |