Linked Data
dbSNP Id:
rs1183753201
gnomAD v3:
3-53844883-A-AGCTT
gnomAD v4:
3-53844883-A-AGCTT
MyVariant Identifiers:
chr3:g.53878910_53878911insGCTT (hg19)
chr3:g.53844883_53844884insGCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53844886_53844889dup , CM000665.2:g.53844886_53844889dup | GRCh38 |
| NC_000003.11:g.53878913_53878916dup , CM000665.1:g.53878913_53878916dup | GRCh37 |
| NC_000003.10:g.53853953_53853956dup | NCBI36 |
| NG_028042.1:g.6507_6510dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315251.11:c.-131+1196_-131+1199dup MANE Select | ENSP00000319851.5:n.-131+1196_-131+1199dup | |
| ENST00000315251.10:c.-131+1196_-131+1199dup | ENSP00000319851.5:n.-131+1196_-131+1199dup | |
| NM_018397.4:c.-131+1196_-131+1199dup | NP_060867.2:n.-131+1196_-131+1199dup | |
| XM_006713250.2:c.-131+1196_-131+1199dup | XP_006713313.1:n.-131+1196_-131+1199dup | |
| XM_006713251.2:c.-131+935_-131+938dup | XP_006713314.1:n.-131+935_-131+938dup | |
| XM_006713252.2:c.-131+1196_-131+1199dup | XP_006713315.1:n.-131+1196_-131+1199dup | |
| XM_011533939.1:c.-175_-172dup | XP_011532241.1:n.-175_-172dup | |
| XM_006713250.4:c.-131+1196_-131+1199dup | XP_006713313.1:n.-131+1196_-131+1199dup | |
| XM_006713251.4:c.-131+935_-131+938dup | XP_006713314.1:n.-131+935_-131+938dup | |
| XM_006713252.4:c.-131+1196_-131+1199dup | XP_006713315.1:n.-131+1196_-131+1199dup | |
| XM_011533939.3:c.-175_-172dup | XP_011532241.1:n.-175_-172dup | |
| XM_017006799.2:c.-131+1196_-131+1199dup | XP_016862288.1:n.-131+1196_-131+1199dup | |
| XR_001740199.2:n.382+1196_382+1199dup | ||
| XR_002959545.1:n.382+1196_382+1199dup | ||
| NM_018397.5:c.-131+1196_-131+1199dup MANE Select | NP_060867.2:n.-131+1196_-131+1199dup |