Linked Data
dbSNP Id:
rs1266445394
gnomAD v2:
14-24615447-C-CGAG
gnomAD v3:
14-24146238-C-CGAG
gnomAD v4:
14-24146238-C-CGAG
MyVariant Identifiers:
chr14:g.24615447_24615448insGAG (hg19)
chr14:g.24146238_24146239insGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24146238_24146239insGAG , CM000676.2:g.24146238_24146239insGAG | GRCh38 |
| NC_000014.8:g.24615447_24615448insGAG , CM000676.1:g.24615447_24615448insGAG | GRCh37 |
| NC_000014.7:g.23685287_23685288insGAG | NCBI36 |
| NG_042234.1:g.4364_4365insGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216802.10:c.50_51insCTC MANE Select | ENSP00000216802.5:p.Val17_Glu18insSer | |
| ENST00000216802.9:c.50_51insCTC | ENSP00000216802.5:p.Val17_Glu18insSer | |
| ENST00000471700.6:n.48_49insCTC | ||
| ENST00000558273.5:c.50_51insCTC | ENSP00000453195.1:p.Val17_Glu18insSer | |
| ENST00000558931.5:n.727_728insCTC | ||
| ENST00000559056.5:c.-182_-181insCTC | ENSP00000452940.1:n.-182_-181insCTC | |
| ENST00000559493.5:n.47_48insCTC | ||
| ENST00000559613.1:n.98_99insCTC | ||
| ENST00000560370.3:c.50_51insCTC | ENSP00000453161.1:p.Val17_Glu18insSer | |
| ENST00000560410.5:c.48+295_48+296insCTC | ENSP00000453487.1:n.48+295_48+296insCTC | |
| ENST00000560592.5:n.90_91insCTC | ||
| ENST00000560788.1:n.65_66insCTC | ||
| ENST00000615264.4:c.50_51insCTC | ENSP00000484569.1:p.Val17_Glu18insSer | |
| ENST00000630027.1:c.50_51insCTC | ENSP00000485798.1:p.Val17_Glu18insSer | |
| NM_002818.2:c.50_51insCTC | NP_002809.2:p.Val17_Glu18insSer | |
| XM_006720213.1:c.-306_-305insCTC | XP_006720276.1:n.-306_-305insCTC | |
| XM_006720213.2:c.-306_-305insCTC | XP_006720276.1:n.-306_-305insCTC | |
| NM_002818.3:c.50_51insCTC MANE Select | NP_002809.2:p.Val17_Glu18insSer |