Linked Data
dbSNP Id:
rs1482197320
gnomAD v2:
10-88516866-C-CCCCGCGCCGCGT
gnomAD v3:
10-86757109-C-CCCCGCGCCGCGT
gnomAD v4:
10-86757109-C-CCCCGCGCCGCGT
MyVariant Identifiers:
chr10:g.88516866_88516867insCCCGCGCCGCGT (hg19)
chr10:g.86757109_86757110insCCCGCGCCGCGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86757113_86757124dup , CM000672.2:g.86757113_86757124dup | GRCh38 |
| NC_000010.10:g.88516870_88516881dup , CM000672.1:g.88516870_88516881dup | GRCh37 |
| NC_000010.9:g.88506850_88506861dup | NCBI36 |
| NG_009362.1:g.5475_5486dup , LRG_298:g.5475_5486dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.-373+194_-373+205dup | ENSP00000483569.2:n.-373+194_-373+205dup | |
| ENST00000635816.2:c.-268+194_-268+205dup | ENSP00000489707.1:n.-268+194_-268+205dup | |
| ENST00000636056.2:c.-268+194_-268+205dup | ENSP00000490273.1:n.-268+194_-268+205dup | |
| ENST00000372037.8:c.-268+194_-268+205dup MANE Select | ENSP00000361107.2:n.-268+194_-268+205dup | |
| ENST00000638429.1:c.-268+194_-268+205dup | ENSP00000492290.1:n.-268+194_-268+205dup | |
| ENST00000372037.7:c.-268+194_-268+205dup | ENSP00000361107.1:n.-268+194_-268+205dup | |
| NM_004329.2:c.-268+194_-268+205dup , LRG_298t1:c.-268+194_-268+205dup | NP_004320.2:n.-268+194_-268+205dup | |
| XM_011540103.1:c.-268+1150_-268+1161dup | XP_011538405.1:n.-268+1150_-268+1161dup | |
| XM_011540104.1:c.-373+194_-373+205dup | XP_011538406.1:n.-373+194_-373+205dup | |
| XM_011540103.2:c.-268+1150_-268+1161dup | XP_011538405.1:n.-268+1150_-268+1161dup | |
| XM_011540104.2:c.-373+194_-373+205dup | XP_011538406.1:n.-373+194_-373+205dup | |
| NM_004329.3:c.-268+194_-268+205dup MANE Select | NP_004320.2:n.-268+194_-268+205dup |