Linked Data
dbSNP Id:
rs1432968894
gnomAD v2:
3-128205374-T-TGTCA
gnomAD v3:
3-128486531-T-TGTCA
gnomAD v4:
3-128486531-T-TGTCA
MyVariant Identifiers:
chr3:g.128205374_128205375insGTCA (hg19)
chr3:g.128486531_128486532insGTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128486535_128486538dup , CM000665.2:g.128486535_128486538dup | GRCh38 |
| NC_000003.11:g.128205378_128205381dup , CM000665.1:g.128205378_128205381dup | GRCh37 |
| NC_000003.10:g.129688068_129688071dup | NCBI36 |
| NG_029334.1:g.11653_11656dup , LRG_295:g.11653_11656dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.230-167_230-164dup MANE Plus Clinical | ENSP00000417074.1:n.230-167_230-164dup | |
| ENST00000696466.1:c.512-167_512-164dup | ENSP00000512647.1:n.512-167_512-164dup | |
| ENST00000341105.7:c.230-167_230-164dup MANE Select | ENSP00000345681.2:n.230-167_230-164dup | |
| ENST00000341105.6:c.230-167_230-164dup | ENSP00000345681.2:n.230-167_230-164dup | |
| ENST00000430265.6:c.230-167_230-164dup | ENSP00000400259.2:n.230-167_230-164dup | |
| ENST00000487848.5:c.230-167_230-164dup | ENSP00000417074.1:n.230-167_230-164dup | |
| ENST00000492608.1:c.230-167_230-164dup | ENSP00000418132.1:n.230-167_230-164dup | |
| NM_001145661.1:c.230-167_230-164dup , LRG_295t1:c.230-167_230-164dup | NP_001139133.1:n.230-167_230-164dup | |
| NM_001145662.1:c.230-167_230-164dup | NP_001139134.1:n.230-167_230-164dup | |
| NM_032638.4:c.230-167_230-164dup , LRG_295t2:c.230-167_230-164dup | NP_116027.2:n.230-167_230-164dup | |
| NM_001145661.2:c.230-167_230-164dup MANE Plus Clinical | NP_001139133.1:n.230-167_230-164dup | |
| NM_032638.5:c.230-167_230-164dup MANE Select | NP_116027.2:n.230-167_230-164dup |