Linked Data
dbSNP Id:
rs1324939865
gnomAD v3:
3-143286236-G-GTAT
gnomAD v4:
3-143286236-G-GTAT
MyVariant Identifiers:
chr3:g.143005078_143005079insTAT (hg19)
chr3:g.143286236_143286237insTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143286237_143286239dup , CM000665.2:g.143286237_143286239dup | GRCh38 |
| NC_000003.11:g.143005079_143005081dup , CM000665.1:g.143005079_143005081dup | GRCh37 |
| NC_000003.10:g.144487769_144487771dup | NCBI36 |
| NG_017077.1:g.567293_567295dup | |
| NG_017077.2:g.567293_567295dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.1605-17259_1605-17257dup MANE Select | ENSP00000320246.6:n.1605-17259_1605-17257dup | |
| ENST00000316549.10:c.1605-17259_1605-17257dup | ENSP00000320246.6:n.1605-17259_1605-17257dup | |
| NM_173653.3:c.1605-17259_1605-17257dup | NP_775924.1:n.1605-17259_1605-17257dup | |
| XM_011512703.1:c.957-17259_957-17257dup | XP_011511005.1:n.957-17259_957-17257dup | |
| XM_011512703.3:c.957-17259_957-17257dup | XP_011511005.1:n.957-17259_957-17257dup | |
| XM_017006202.2:c.1712-1897_1712-1895dup | XP_016861691.1:n.1712-1897_1712-1895dup | |
| XM_017006203.1:c.1254-17259_1254-17257dup | XP_016861692.1:n.1254-17259_1254-17257dup | |
| NM_173653.4:c.1605-17259_1605-17257dup MANE Select | NP_775924.1:n.1605-17259_1605-17257dup |