Linked Data
dbSNP Id:
rs966073385
gnomAD v3:
10-104064384-T-TAG
gnomAD v4:
10-104064384-T-TAG
MyVariant Identifiers:
chr10:g.105824142_105824143insAG (hg19)
chr10:g.104064384_104064385insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104064387_104064388dup , CM000672.2:g.104064387_104064388dup | GRCh38 |
| NC_000010.10:g.105824145_105824146dup , CM000672.1:g.105824145_105824146dup | GRCh37 |
| NC_000010.9:g.105814135_105814136dup | NCBI36 |
| NG_007069.1:g.26495_26496dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.766+52_766+53dup | ENSP00000358748.3:n.766+52_766+53dup | |
| ENST00000648076.2:c.766+52_766+53dup MANE Select | ENSP00000497653.1:n.766+52_766+53dup | |
| ENST00000649118.1:n.881+52_881+53dup | ||
| ENST00000650263.1:c.718+52_718+53dup | ENSP00000497850.1:n.718+52_718+53dup | |
| ENST00000353479.9:c.766+52_766+53dup | ENSP00000340937.5:n.766+52_766+53dup | |
| ENST00000369733.7:c.766+52_766+53dup | ENSP00000358748.3:n.766+52_766+53dup | |
| ENST00000393211.3:c.766+52_766+53dup | ENSP00000376905.3:n.766+52_766+53dup | |
| ENST00000488320.1:n.111+52_111+53dup | ||
| NM_000494.3:c.766+52_766+53dup | NP_000485.3:n.766+52_766+53dup | |
| NM_000494.4:c.766+52_766+53dup MANE Select | NP_000485.3:n.766+52_766+53dup |