Linked Data
dbSNP Id:
rs1564305078
gnomAD v2:
9-136132633-A-AGCCCCCG
gnomAD v3:
9-133257246-A-AGCCCCCG
gnomAD v4:
9-133257246-A-AGCCCCCG
MyVariant Identifiers:
chr9:g.136132633_136132634insGCCCCCG (hg19)
chr9:g.133257246_133257247insGCCCCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257246_133257247insGCCCCCG , CM000671.2:g.133257246_133257247insGCCCCCG | GRCh38 |
| NC_000009.11:g.136132633_136132634insGCCCCCG , CM000671.1:g.136132633_136132634insGCCCCCG | GRCh37 |
| NC_000009.10:g.135122454_135122455insGCCCCCG | NCBI36 |
| NG_006669.1:g.20421_20422insCGGGGGC | |
| NG_006669.2:g.22969_22970insCGGGGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.403+162_403+163insCGGGGGC | ||
| ENST00000647353.1:n.54-6095_54-6094insCGGGGGC | ||
| ENST00000651471.1:n.329+795_329+796insCGGGGGC | ||
| ENST00000679909.1:c.28+17915_28+17916insCGGGGGC | ENSP00000506089.1:n.28+17915_28+17916insC... | |
| ENST00000453660.3:n.385+162_385+163insCGGGGGC | ||
| ENST00000538324.2:c.371+162_371+163insCGGGGGC | ENSP00000483018.1:n.371+162_371+163insCGG... | |
| ENST00000611156.4:c.371+162_371+163insCGGGGGC | ENSP00000483265.1:n.371+162_371+163insCGG... | |
| NM_020469.2:c.374+162_374+163insCGGGGGC | NP_065202.2:n.374+162_374+163insCGGGGGC | |
| NM_020469.3:c.374+162_374+163insCGGGGGC | NP_065202.2:n.374+162_374+163insCGGGGGC |