Linked Data
dbSNP Id:
rs1005299683
gnomAD v2:
13-29233415-T-TGGCGGC
gnomAD v3:
13-28659278-T-TGGCGGC
gnomAD v4:
13-28659278-T-TGGCGGC
MyVariant Identifiers:
chr13:g.29233415_29233416insGGCGGC (hg19)
chr13:g.28659278_28659279insGGCGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659288_28659293dup , CM000675.2:g.28659288_28659293dup | GRCh38 |
| NC_000013.10:g.29233425_29233430dup , CM000675.1:g.29233425_29233430dup | GRCh37 |
| NC_000013.9:g.28131425_28131430dup | NCBI36 |
| NG_027550.1:g.5285_5290dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697661.1:c.-246+101_-246+106dup | ENSP00000513386.1:n.-246+101_-246+106dup | |
| ENST00000697662.1:c.-282+101_-282+106dup | ENSP00000513387.1:n.-282+101_-282+106dup | |
| ENST00000697716.1:c.-83+101_-83+106dup | ENSP00000513414.1:n.-83+101_-83+106dup | |
| ENST00000697717.1:c.3+101_3+106dup | ENSP00000513415.1:n.3+101_3+106dup | |
| ENST00000697718.1:c.3+101_3+106dup | ENSP00000513416.1:n.3+101_3+106dup | |
| ENST00000380842.5:c.3+101_3+106dup MANE Select | ENSP00000370222.4:n.3+101_3+106dup | |
| ENST00000380842.4:c.3+101_3+106dup | ENSP00000370222.4:n.3+101_3+106dup | |
| ENST00000460403.1:n.84+101_84+106dup | ||
| NM_015932.5:c.3+101_3+106dup | NP_057016.1:n.3+101_3+106dup | |
| XR_941802.1:n.94_99dup | ||
| NM_015932.6:c.3+101_3+106dup MANE Select | NP_057016.1:n.3+101_3+106dup |