Linked Data
ClinVar Variation Id:
221962
dbSNP Id:
rs869025268
gnomAD v2:
14-74706329-C-CG
gnomAD v4:
14-74239626-C-CG
MyVariant Identifiers:
chr14:g.74706335dupG (hg19)
chr14:g.74706329_74706330insG (hg19)
chr14:g.74239632dupG (hg38)
PubMed:
PMID:26893459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74239632dup , CM000676.2:g.74239632dup | GRCh38 |
| NC_000014.8:g.74706335dup , CM000676.1:g.74706335dup | GRCh37 |
| NC_000014.7:g.73776088dup | NCBI36 |
| NG_013092.1:g.5161dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.71dup MANE Select | ENSP00000261980.2:p.Ala25ArgfsTer? | |
| ENST00000261980.2:c.71dup | ENSP00000261980.2:p.Ala25ArgfsTer? | |
| NM_182894.2:c.71dup | NP_878314.1:p.Ala25ArgfsTer? | |
| XM_011536719.1:c.71dup | XP_011535021.1:p.Ala25ArgfsTer? | |
| NM_182894.3:c.71dup MANE Select | NP_878314.1:p.Ala25ArgfsTer? |