Linked Data
dbSNP Id:
rs1263404165
gnomAD v2:
19-9325140-G-GGAGGGA
MyVariant Identifiers:
chr19:g.9325140_9325141insGAGGGA (hg19)
chr19:g.9214464_9214465insGAGGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214464_9214465insGAGGGA , CM000681.2:g.9214464_9214465insGAGGGA | GRCh38 |
| NC_000019.9:g.9325140_9325141insGAGGGA , CM000681.1:g.9325140_9325141insGAGGGA | GRCh37 |
| NC_000019.8:g.9186140_9186141insGAGGGA | NCBI36 |
| NG_027953.1:g.5407_5408insTCCCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.373_374insTCCCTC | ENSP00000493404.1:p.Ala125delinsValProPro | |
| ENST00000641669.1:c.373_374insTCCCTC MANE Select | ENSP00000493383.1:p.Ala125delinsValProPro | |
| ENST00000308682.3:c.373_374insTCCCTC | ENSP00000310488.2:p.Ala125delinsValProPro | |
| NM_001005191.2:c.373_374insTCCCTC | NP_001005191.1:p.Ala125delinsValProPro | |
| NM_001005191.3:c.373_374insTCCCTC MANE Select | NP_001005191.1:p.Ala125delinsValProPro |