Linked Data
dbSNP Id:
rs928555627
gnomAD v3:
10-122461620-T-TCCGCCGCCA
gnomAD v4:
10-122461620-T-TCCGCCGCCA
MyVariant Identifiers:
chr10:g.124221136_124221137insCCGCCGCCA (hg19)
chr10:g.122461620_122461621insCCGCCGCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461629_122461637dup , CM000672.2:g.122461629_122461637dup | GRCh38 |
| NC_000010.10:g.124221145_124221153dup , CM000672.1:g.124221145_124221153dup | GRCh37 |
| NC_000010.9:g.124211135_124211143dup | NCBI36 |
| NG_011554.1:g.5105_5113dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.-24_-16dup MANE Select | ENSP00000357980.3:n.-24_-16dup | |
| ENST00000648167.1:c.154+2920_154+2928dup | ENSP00000498033.1:n.154+2920_154+2928dup | |
| ENST00000368984.7:c.-24_-16dup | ENSP00000357980.3:n.-24_-16dup | |
| NM_002775.4:c.-24_-16dup | NP_002766.1:n.-24_-16dup | |
| NM_002775.5:c.-24_-16dup MANE Select | NP_002766.1:n.-24_-16dup |