Linked Data
dbSNP Id:
rs1559985003
gnomAD v2:
3-128200630-G-GGGGCGGGGT
gnomAD v4:
3-128481787-G-GGGGCGGGGT
MyVariant Identifiers:
chr3:g.128200630_128200631insGGGCGGGGT (hg19)
chr3:g.128481787_128481788insGGGCGGGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481790_128481798dup , CM000665.2:g.128481790_128481798dup | GRCh38 |
| NC_000003.11:g.128200633_128200641dup , CM000665.1:g.128200633_128200641dup | GRCh37 |
| NC_000003.10:g.129683323_129683331dup | NCBI36 |
| NG_029334.1:g.16392_16400dup , LRG_295:g.16392_16400dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1143+23_1143+31dup MANE Plus Clinical | ENSP00000417074.1:n.1143+23_1143+31dup | |
| ENST00000696466.1:c.1425+23_1425+31dup | ENSP00000512647.1:n.1425+23_1425+31dup | |
| ENST00000696672.1:c.126+23_126+31dup | ENSP00000512796.1:n.126+23_126+31dup | |
| ENST00000341105.7:c.1143+23_1143+31dup MANE Select | ENSP00000345681.2:n.1143+23_1143+31dup | |
| ENST00000341105.6:c.1143+23_1143+31dup | ENSP00000345681.2:n.1143+23_1143+31dup | |
| ENST00000430265.6:c.1101+23_1101+31dup | ENSP00000400259.2:n.1101+23_1101+31dup | |
| ENST00000487848.5:c.1143+23_1143+31dup | ENSP00000417074.1:n.1143+23_1143+31dup | |
| ENST00000489987.1:n.260+23_260+31dup | ||
| NM_001145661.1:c.1143+23_1143+31dup , LRG_295t1:c.1143+23_1143+31dup | NP_001139133.1:n.1143+23_1143+31dup | |
| NM_001145662.1:c.1101+23_1101+31dup | NP_001139134.1:n.1101+23_1101+31dup | |
| NM_032638.4:c.1143+23_1143+31dup , LRG_295t2:c.1143+23_1143+31dup | NP_116027.2:n.1143+23_1143+31dup | |
| NM_001145661.2:c.1143+23_1143+31dup MANE Plus Clinical | NP_001139133.1:n.1143+23_1143+31dup | |
| NM_032638.5:c.1143+23_1143+31dup MANE Select | NP_116027.2:n.1143+23_1143+31dup |