Linked Data
ClinVar Variation Id:
1392697
ClinVar RCV Id:
RCV001882246
dbSNP Id:
rs754552080
gnomAD v2:
7-19156685-G-GCGCCGC
gnomAD v3:
7-19117062-G-GCGCCGC
gnomAD v4:
7-19117062-G-GCGCCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117073_19117078dup , CM000669.2:g.19117073_19117078dup | GRCh38 |
| NC_000007.13:g.19156696_19156701dup , CM000669.1:g.19156696_19156701dup | GRCh37 |
| NC_000007.12:g.19123221_19123226dup | NCBI36 |
| NG_008114.1:g.5605_5610dup | |
| NG_008114.2:g.5605_5610dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.254_259dup MANE Select | ENSP00000242261.5:p.Gly86_Ala87insGlyGly | |
| ENST00000242261.5:c.254_259dup | ENSP00000242261.5:p.Gly86_Ala87insGlyGly | |
| ENST00000354571.5:c.51_56dup | ||
| NM_000474.3:c.254_259dup | NP_000465.1:p.Gly86_Ala87insGlyGly | |
| XM_011515496.1:c.254_259dup | XP_011513798.1:p.Gly86_Ala87insGlyGly | |
| NR_149001.1:n.605_610dup | ||
| NM_000474.4:c.254_259dup MANE Select | NP_000465.1:p.Gly86_Ala87insGlyGly | |
| NR_149001.2:n.569_574dup |