Linked Data
dbSNP Id:
rs1970239616
gnomAD v2:
19-38993453-G-GGGC
gnomAD v3:
19-38502813-G-GGGC
gnomAD v4:
19-38502813-G-GGGC
MyVariant Identifiers:
chr19:g.38993454_38993457delinsGGCAGCA (hg19)
chr19:g.38502814_38502817delinsGGCAGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502813_38502814insGGC , CM000681.2:g.38502813_38502814insGGC | GRCh38 |
| NC_000019.9:g.38993453_38993454insGGC , CM000681.1:g.38993453_38993454insGGC | GRCh37 |
| NC_000019.8:g.43685293_43685294insGGC | NCBI36 |
| NG_008866.1:g.74114_74115insGGC , LRG_766:g.74114_74115insGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7836-67_7836-66insGGC | ENSP00000471601.2:n.7836-67_7836-66insGGC | |
| ENST00000359596.8:c.7836-67_7836-66insGGC MANE Select | ENSP00000352608.2:n.7836-67_7836-66insGGC | |
| ENST00000355481.8:c.7836-67_7836-66insGGC | ENSP00000347667.3:n.7836-67_7836-66insGGC | |
| ENST00000359596.7:c.7836-67_7836-66insGGC | ENSP00000352608.2:n.7836-67_7836-66insGGC | |
| ENST00000360985.7:c.7833-67_7833-66insGGC | ENSP00000354254.4:n.7833-67_7833-66insGGC | |
| ENST00000594335.5:c.1288-67_1288-66insGGC | ||
| NM_000540.2:c.7836-67_7836-66insGGC , LRG_766t1:c.7836-67_7836-66insGGC | NP_000531.2:n.7836-67_7836-66insGGC | |
| NM_001042723.1:c.7836-67_7836-66insGGC | NP_001036188.1:n.7836-67_7836-66insGGC | |
| XM_006723317.1:c.7836-67_7836-66insGGC | XP_006723380.1:n.7836-67_7836-66insGGC | |
| XM_006723319.1:c.7836-67_7836-66insGGC | XP_006723382.1:n.7836-67_7836-66insGGC | |
| XM_011527204.1:c.7833-67_7833-66insGGC | XP_011525506.1:n.7833-67_7833-66insGGC | |
| XM_011527205.1:c.7836-67_7836-66insGGC | XP_011525507.1:n.7836-67_7836-66insGGC | |
| XM_006723317.2:c.7836-67_7836-66insGGC | XP_006723380.1:n.7836-67_7836-66insGGC | |
| XM_006723319.2:c.7836-67_7836-66insGGC | XP_006723382.1:n.7836-67_7836-66insGGC | |
| XM_011527205.2:c.7836-67_7836-66insGGC | XP_011525507.1:n.7836-67_7836-66insGGC | |
| XR_001753735.1:n.7919-67_7919-66insGGC | ||
| NM_000540.3:c.7836-67_7836-66insGGC MANE Select | NP_000531.2:n.7836-67_7836-66insGGC | |
| NM_001042723.2:c.7836-67_7836-66insGGC | NP_001036188.1:n.7836-67_7836-66insGGC |