Linked Data
dbSNP Id:
rs987381313
gnomAD v4:
14-28767482-C-CGCCGCA
MyVariant Identifiers:
chr14:g.29236688_29236689insGCCGCA (hg19)
chr14:g.28767482_28767483insGCCGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767485_28767490dup , CM000676.2:g.28767485_28767490dup | GRCh38 |
| NC_000014.8:g.29236691_29236696dup , CM000676.1:g.29236691_29236696dup | GRCh37 |
| NC_000014.7:g.28306442_28306447dup | NCBI36 |
| NG_009367.1:g.5405_5410dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.206_211dup | ENSP00000516406.1:p.Gln70_Gln71insProGln | |
| ENST00000313071.7:c.206_211dup MANE Select | ENSP00000339004.3:p.Gln70_Gln71insProGln | |
| ENST00000313071.6:c.206_211dup | ENSP00000339004.3:p.Gln70_Gln71insProGln | |
| NM_005249.4:c.206_211dup | NP_005240.3:p.Gln70_Gln71insProGln | |
| NM_005249.5:c.206_211dup MANE Select | NP_005240.3:p.Gln70_Gln71insProGln |