Linked Data
ClinVar Variation Id:
17853
ClinVar RCV Id:
RCV000019434
dbSNP Id:
rs397514254
gnomAD v4:
19-44908706-G-GCGGCGAGGTGCAGGCCATGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908711_44908731dup , CM000681.2:g.44908711_44908731dup | GRCh38 |
| NC_000019.9:g.45411968_45411988dup , CM000681.1:g.45411968_45411988dup | GRCh37 |
| NC_000019.8:g.50103808_50103828dup | NCBI36 |
| NG_007084.2:g.7930_7950dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.415_435dup MANE Select | ENSP00000252486.3:p.Gly145_Gln146insGluVa... | |
| ENST00000252486.8:c.415_435dup | ENSP00000252486.3:p.Gly145_Gln146insGluVa... | |
| ENST00000425718.1:c.415_435dup | ENSP00000410423.1:p.Gly145_Gln146insGluVa... | |
| ENST00000434152.5:c.493_513dup | ENSP00000413653.2:p.Gly171_Gln172insGluVa... | |
| ENST00000446996.5:c.415_435dup | ENSP00000413135.1:p.Gly145_Gln146insGluVa... | |
| NM_000041.3:c.415_435dup | NP_000032.1:p.Gly145_Gln146insGluValGlnAl... | |
| NM_001302688.1:c.493_513dup | NP_001289617.1:p.Gly171_Gln172insGluValGl... | |
| NM_001302689.1:c.415_435dup | NP_001289618.1:p.Gly145_Gln146insGluValGl... | |
| NM_001302690.1:c.415_435dup | NP_001289619.1:p.Gly145_Gln146insGluValGl... | |
| NM_001302691.1:c.415_435dup | NP_001289620.1:p.Gly145_Gln146insGluValGl... | |
| NM_000041.4:c.415_435dup MANE Select | NP_000032.1:p.Gly145_Gln146insGluValGlnAl... | |
| NM_001302688.2:c.493_513dup | NP_001289617.1:p.Gly171_Gln172insGluValGl... | |
| NM_001302689.2:c.415_435dup | NP_001289618.1:p.Gly145_Gln146insGluValGl... | |
| NM_001302691.2:c.415_435dup | NP_001289620.1:p.Gly145_Gln146insGluValGl... | |
| NM_001302690.2:c.415_435dup | NP_001289619.1:p.Gly145_Gln146insGluValGl... |