Linked Data
gnomAD v2:
22-20230108-A-ATGCGCT
gnomAD v3:
22-20242585-A-ATGCGCT
gnomAD v4:
22-20242585-A-ATGCGCT
MyVariant Identifiers:
chr22:g.20230108_20230109insTGCGCT (hg19)
chr22:g.20242585_20242586insTGCGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242585_20242586insTGCGCT , CM000684.2:g.20242585_20242586insTGCGCT | GRCh38 |
| NC_000022.10:g.20230108_20230109insTGCGCT , CM000684.1:g.20230108_20230109insTGCGCT | GRCh37 |
| NC_000022.9:g.18610108_18610109insTGCGCT | NCBI36 |
| NG_012176.1:g.30708_30709insAGCGCA | |
| NG_012176.2:g.30708_30709insAGCGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.547_548insAGCGCA MANE Select | ENSP00000043402.7:p.Leu183delinsGlnArgIle | |
| ENST00000043402.7:c.547_548insAGCGCA | ENSP00000043402.7:p.Leu183delinsGlnArgIle | |
| ENST00000416372.5:c.606_607insAGCGCA | ||
| ENST00000425986.1:c.804_805insAGCGCA | ||
| NM_023004.5:c.547_548insAGCGCA | NP_075380.1:p.Leu183delinsGlnArgIle | |
| NM_023004.6:c.547_548insAGCGCA MANE Select | NP_075380.1:p.Leu183delinsGlnArgIle |