Linked Data
dbSNP Id:
rs986144582
gnomAD v2:
9-136132622-C-CACGAGCCG
gnomAD v3:
9-133257235-C-CACGAGCCG
gnomAD v4:
9-133257235-C-CACGAGCCG
MyVariant Identifiers:
chr9:g.136132622_136132623insACGAGCCG (hg19)
chr9:g.133257235_133257236insACGAGCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257242_133257243insGACGAGCC , CM000671.2:g.133257242_133257243insGACGAGCC | GRCh38 |
| NC_000009.11:g.136132629_136132630insGACGAGCC , CM000671.1:g.136132629_136132630insGACGAGCC | GRCh37 |
| NC_000009.10:g.135122450_135122451insGACGAGCC | NCBI36 |
| NG_006669.1:g.20432_20433insCGGCTCGT | |
| NG_006669.2:g.22980_22981insCGGCTCGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.403+173_403+174insCGGCTCGT | ||
| ENST00000647353.1:n.54-6084_54-6083insCGGCTCGT | ||
| ENST00000651471.1:n.329+806_329+807insCGGCTCGT | ||
| ENST00000679909.1:c.28+17926_28+17927insCGGCTCGT | ENSP00000506089.1:n.28+17926_28+17927insC... | |
| ENST00000453660.3:n.385+173_385+174insCGGCTCGT | ||
| ENST00000538324.2:c.371+173_371+174insCGGCTCGT | ENSP00000483018.1:n.371+173_371+174insCGG... | |
| ENST00000611156.4:c.371+173_371+174insCGGCTCGT | ENSP00000483265.1:n.371+173_371+174insCGG... | |
| NM_020469.2:c.374+173_374+174insCGGCTCGT | NP_065202.2:n.374+173_374+174insCGGCTCGT | |
| NM_020469.3:c.374+173_374+174insCGGCTCGT | NP_065202.2:n.374+173_374+174insCGGCTCGT |