Linked Data
ClinVar Variation Id:
531717
ClinVar RCV Id:
RCV000638198
dbSNP Id:
rs567208173
gnomAD v2:
1-151584734-T-TGGCGGC
gnomAD v3:
1-151612258-T-TGGCGGC
gnomAD v4:
1-151612258-T-TGGCGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151612267_151612272dup , CM000663.2:g.151612267_151612272dup | GRCh38 |
| NC_000001.10:g.151584743_151584748dup , CM000663.1:g.151584743_151584748dup | GRCh37 |
| NC_000001.9:g.149851367_149851372dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368841.7:c.66_71dup | ENSP00000357834.2:p.Gly24_Gly25insGlyGly | |
| ENST00000368843.8:c.66_71dup | ENSP00000357836.3:p.Gly24_Gly25insGlyGly | |
| ENST00000458013.7:c.66_71dup MANE Select | ENSP00000400333.2:p.Gly24_Gly25insGlyGly | |
| ENST00000642376.1:c.66_71dup | ENSP00000496645.1:p.Gly24_Gly25insGlyGly | |
| ENST00000642479.1:c.66_71dup | ENSP00000496775.1:p.Gly24_Gly25insGlyGly | |
| ENST00000368841.6:c.66_71dup | ENSP00000357834.2:p.Gly24_Gly25insGlyGly | |
| ENST00000368843.7:c.66_71dup | ENSP00000357836.3:p.Gly24_Gly25insGlyGly | |
| ENST00000458013.6:c.66_71dup | ENSP00000400333.2:p.Gly24_Gly25insGlyGly | |
| NM_030918.5:c.66_71dup | NP_112180.4:p.Gly24_Gly25insGlyGly | |
| XM_005245509.1:c.66_71dup | XP_005245566.1:p.Gly24_Gly25insGlyGly | |
| XM_005245511.3:c.-362_-357dup | XP_005245568.1:n.-362_-357dup | |
| XM_011510024.1:c.66_71dup | XP_011508326.1:p.Gly24_Gly25insGlyGly | |
| XM_011510025.1:c.66_71dup | XP_011508327.1:p.Gly24_Gly25insGlyGly | |
| XM_011510026.1:c.66_71dup | XP_011508328.1:p.Gly24_Gly25insGlyGly | |
| NM_001330723.1:c.66_71dup | NP_001317652.1:p.Gly24_Gly25insGlyGly | |
| XM_005245511.4:c.-362_-357dup | XP_005245568.1:n.-362_-357dup | |
| XM_011510024.2:c.66_71dup | XP_011508326.1:p.Gly24_Gly25insGlyGly | |
| XM_011510025.2:c.66_71dup | XP_011508327.1:p.Gly24_Gly25insGlyGly | |
| XM_011510026.2:c.66_71dup | XP_011508328.1:p.Gly24_Gly25insGlyGly | |
| XM_017002417.1:c.66_71dup | XP_016857906.1:p.Gly24_Gly25insGlyGly | |
| XM_024450038.1:c.-261_-256dup | XP_024305806.1:n.-261_-256dup | |
| NM_001330723.2:c.66_71dup MANE Select | NP_001317652.1:p.Gly24_Gly25insGlyGly | |
| NM_030918.6:c.66_71dup | NP_112180.4:p.Gly24_Gly25insGlyGly |