Linked Data
ClinVar Variation Id:
845136
ClinVar RCV Id:
RCV001048147
dbSNP Id:
rs1554442039
gnomAD v4:
7-19117028-C-CCCGCCGCCGCTGCTGCTGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117039_19117059dup , CM000669.2:g.19117039_19117059dup | GRCh38 |
| NC_000007.13:g.19156662_19156682dup , CM000669.1:g.19156662_19156682dup | GRCh37 |
| NC_000007.12:g.19123187_19123207dup | NCBI36 |
| NG_008114.1:g.5624_5644dup | |
| NG_008114.2:g.5624_5644dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.273_293dup MANE Select | ENSP00000242261.5:p.Gly98_Ser99insGlySerSerSerGlyGlyGly | |
| ENST00000242261.5:c.273_293dup | ENSP00000242261.5:p.Gly98_Ser99insGlySerSerSerGlyGlyGly | |
| ENST00000354571.5:c.70_90dup | ||
| NM_000474.3:c.273_293dup | NP_000465.1:p.Gly98_Ser99insGlySerSerSerGlyGlyGly | |
| XM_011515496.1:c.273_293dup | XP_011513798.1:p.Gly98_Ser99insGlySerSerSerGlyGlyGly | |
| NR_149001.1:n.624_644dup | ||
| NM_000474.4:c.273_293dup MANE Select | NP_000465.1:p.Gly98_Ser99insGlySerSerSerGlyGlyGly | |
| NR_149001.2:n.588_608dup |