Linked Data
dbSNP Id:
rs1414500198
gnomAD v2:
1-1167870-A-AGCGCCGCAGCGTGAT
MyVariant Identifiers:
chr1:g.1167870_1167871insGCGCCGCAGCGTGAT (hg19)
chr1:g.1232490_1232491insGCGCCGCAGCGTGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232491_1232505dup , CM000663.2:g.1232491_1232505dup | GRCh38 |
| NC_000001.10:g.1167871_1167885dup , CM000663.1:g.1167871_1167885dup | GRCh37 |
| NC_000001.9:g.1157734_1157748dup | NCBI36 |
| NG_030007.1:g.4563_4577dup | |
| NG_033265.1:g.5243_5257dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.213_227dup MANE Select | ENSP00000368496.2:p.Val75_Ile76insMetArgArgSerVal | |
| ENST00000379198.3:c.213_227dup | ENSP00000368496.2:p.Val75_Ile76insMetArgArgSerVal | |
| NM_080605.3:c.213_227dup | NP_542172.2:p.Val75_Ile76insMetArgArgSerVal | |
| NM_080605.4:c.213_227dup MANE Select | NP_542172.2:p.Val75_Ile76insMetArgArgSerVal |