Linked Data
ClinVar Variation Id:
2650103
ClinVar RCV Id:
RCV003415319
dbSNP Id:
rs1971889059
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45353262_45353344dup , CM000681.2:g.45353262_45353344dup | GRCh38 |
| NC_000019.9:g.45856520_45856602dup , CM000681.1:g.45856520_45856602dup | GRCh37 |
| NC_000019.8:g.50548360_50548442dup | NCBI36 |
| NG_007067.2:g.22246_22328dup , LRG_461:g.22246_22328dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1666-8_1740dup | ||
| ENST00000682414.1:c.1666-8_1740dup | ||
| ENST00000682508.1:n.1695-8_1769dup | ||
| ENST00000684218.1:c.*924-8_*998dup | ||
| ENST00000684264.1:n.1222-8_1296dup | ||
| ENST00000684407.1:c.1543-8_1617dup | ||
| ENST00000684458.1:c.*152-8_*226dup | ||
| ENST00000684468.1:n.1378-8_1452dup | ||
| ENST00000391945.10:c.1666-8_1740dup | ||
| ENST00000587376.6:c.725-8_799dup | ||
| ENST00000646507.1:n.1763-8_1837dup | ||
| ENST00000391941.6:c.1594-8_1668dup | ||
| ENST00000391942.6:n.837-8_911dup | ||
| ENST00000391944.7:c.1432-8_1506dup | ||
| ENST00000391945.8:c.1666-8_1740dup | ||
| ENST00000587376.5:c.725-8_799dup | ||
| ENST00000588652.5:n.1754-8_1828dup | ||
| NM_000400.3:c.1666-8_1740dup , LRG_461t1:c.1666-8_1740dup | ||
| XM_011526611.1:c.1588-8_1662dup | ||
| XR_935763.1:n.1649-8_1723dup | ||
| XM_011526611.2:c.1588-8_1662dup | ||
| XM_017026467.1:c.1543-8_1617dup | ||
| XR_001753633.2:n.1713-8_1787dup | ||
| XR_001753634.2:n.1649-8_1723dup | ||
| NM_000400.4:c.1666-8_1740dup |