Linked Data
dbSNP Id:
rs746482436
ExAC:
4:46995336 T / TCG
gnomAD v2:
4-46995336-T-TCG
gnomAD v3:
4-46993319-T-TCG
gnomAD v4:
4-46993319-T-TCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993321_46993322dup , CM000666.2:g.46993321_46993322dup | GRCh38 |
| NC_000004.11:g.46995338_46995339dup , CM000666.1:g.46995338_46995339dup | GRCh37 |
| NC_000004.10:g.46690095_46690096dup | NCBI36 |
| NG_011809.1:g.5243_5244dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.86+18_86+19dup MANE Select | ENSP00000264318.3:n.86+18_86+19dup | |
| ENST00000264318.3:c.86+18_86+19dup | ENSP00000264318.3:n.86+18_86+19dup | |
| ENST00000502874.1:c.86+18_86+19dup | ENSP00000424386.1:n.86+18_86+19dup | |
| ENST00000508560.5:c.18+86_18+87dup | ENSP00000425445.1:n.18+86_18+87dup | |
| ENST00000509316.1:n.210+18_210+19dup | ||
| ENST00000511523.5:c.18+86_18+87dup | ENSP00000422152.1:n.18+86_18+87dup | |
| NM_000809.3:c.86+18_86+19dup | NP_000800.2:n.86+18_86+19dup | |
| NM_001204266.1:c.29+86_29+87dup | NP_001191195.1:n.29+86_29+87dup | |
| NM_001204267.1:c.29+86_29+87dup | NP_001191196.1:n.29+86_29+87dup | |
| XM_011513677.1:c.86+18_86+19dup | XP_011511979.1:n.86+18_86+19dup | |
| NM_000809.4:c.86+18_86+19dup MANE Select | NP_000800.2:n.86+18_86+19dup | |
| NM_001204266.2:c.29+86_29+87dup | NP_001191195.1:n.29+86_29+87dup | |
| NM_001204267.2:c.29+86_29+87dup | NP_001191196.1:n.29+86_29+87dup |