Linked Data
dbSNP Id:
rs1174176494
gnomAD v2:
5-36958363-T-TAAAAGTAAATCA
MyVariant Identifiers:
chr5:g.36958363_36958364insAAAAGTAAATCA (hg19)
chr5:g.36958261_36958262insAAAAGTAAATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36958261_36958262insAAAAGTAAATCA , CM000667.2:g.36958261_36958262insAAAAGTAAATCA | GRCh38 |
| NC_000005.9:g.36958363_36958364insAAAAGTAAATCA , CM000667.1:g.36958363_36958364insAAAAGTAAATCA | GRCh37 |
| NC_000005.8:g.36994120_36994121insAAAAGTAAATCA | NCBI36 |
| NG_006987.1:g.86379_86380insAAAAGTAAATCA | |
| NG_006987.2:g.86379_86380insAAAAGTAAATCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.358+30_358+31insAAAAGTAAATCA MANE Select | ENSP00000282516.8:n.358+30_358+31insAAAAGTAAATCA | |
| ENST00000652901.1:c.358+30_358+31insAAAAGTAAATCA | ENSP00000499536.1:n.358+30_358+31insAAAAGTAAATCA | |
| ENST00000282516.12:c.358+30_358+31insAAAAGTAAATCA | ENSP00000282516.8:n.358+30_358+31insAAAAGTAAATCA | |
| ENST00000448238.2:c.358+30_358+31insAAAAGTAAATCA | ENSP00000406266.2:n.358+30_358+31insAAAAGTAAATCA | |
| ENST00000505998.5:n.337+30_337+31insAAAAGTAAATCA | ||
| ENST00000621733.1:c.-1+81239_-1+81240insAAAAGTAAATCA | ENSP00000480694.1:n.-1+81239_-1+81240insAAAAGTAAATCA | |
| NM_015384.4:c.358+30_358+31insAAAAGTAAATCA | NP_056199.2:n.358+30_358+31insAAAAGTAAATCA | |
| NM_133433.3:c.358+30_358+31insAAAAGTAAATCA | NP_597677.2:n.358+30_358+31insAAAAGTAAATCA | |
| XM_005248280.2:c.358+30_358+31insAAAAGTAAATCA | XP_005248337.1:n.358+30_358+31insAAAAGTAAATCA | |
| XM_006714467.2:c.358+30_358+31insAAAAGTAAATCA | XP_006714530.1:n.358+30_358+31insAAAAGTAAATCA | |
| XM_006714468.1:c.358+30_358+31insAAAAGTAAATCA | XP_006714531.1:n.358+30_358+31insAAAAGTAAATCA | |
| XM_011514014.1:c.358+30_358+31insAAAAGTAAATCA | XP_011512316.1:n.358+30_358+31insAAAAGTAAATCA | |
| XM_011514015.1:c.358+30_358+31insAAAAGTAAATCA | XP_011512317.1:n.358+30_358+31insAAAAGTAAATCA | |
| XM_005248280.3:c.358+30_358+31insAAAAGTAAATCA | XP_005248337.1:n.358+30_358+31insAAAAGTAAATCA | |
| XM_006714468.2:c.358+30_358+31insAAAAGTAAATCA | XP_006714531.1:n.358+30_358+31insAAAAGTAAATCA | |
| XM_017009329.1:c.358+30_358+31insAAAAGTAAATCA | XP_016864818.1:n.358+30_358+31insAAAAGTAAATCA | |
| XM_017009331.1:c.358+30_358+31insAAAAGTAAATCA | XP_016864820.1:n.358+30_358+31insAAAAGTAAATCA | |
| NM_133433.4:c.358+30_358+31insAAAAGTAAATCA MANE Select | NP_597677.2:n.358+30_358+31insAAAAGTAAATCA | |
| NM_015384.5:c.358+30_358+31insAAAAGTAAATCA | NP_056199.2:n.358+30_358+31insAAAAGTAAATCA |