Linked Data
dbSNP Id:
rs1440131026
gnomAD v2:
5-42711499-A-ATAAAC
MyVariant Identifiers:
chr5:g.42711499_42711500insTAAAC (hg19)
chr5:g.42711397_42711398insTAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.42711397_42711398insTAAAC , CM000667.2:g.42711397_42711398insTAAAC | GRCh38 |
| NC_000005.9:g.42711499_42711500insTAAAC , CM000667.1:g.42711499_42711500insTAAAC | GRCh37 |
| NC_000005.8:g.42747256_42747257insTAAAC | NCBI36 |
| NG_011688.1:g.292474_292475insTAAAC | |
| NG_011688.2:g.292474_292475insTAAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230882.9:c.784+25_784+26insTAAAC MANE Select | ENSP00000230882.4:n.784+25_784+26insTAAAC | |
| ENST00000230882.8:c.784+25_784+26insTAAAC | ENSP00000230882.4:n.784+25_784+26insTAAAC | |
| ENST00000357703.6:c.718+25_718+26insTAAAC | ENSP00000350335.3:n.718+25_718+26insTAAAC | |
| ENST00000511135.5:c.*396+25_*396+26insTAAAC | ENSP00000422333.1:n.*396+25_*396+26insTAAAC | |
| ENST00000537449.5:c.784+25_784+26insTAAAC | ENSP00000442206.2:n.784+25_784+26insTAAAC | |
| ENST00000612382.4:c.784+25_784+26insTAAAC | ENSP00000478332.1:n.784+25_784+26insTAAAC | |
| ENST00000612626.4:c.784+25_784+26insTAAAC | ENSP00000479846.1:n.784+25_784+26insTAAAC | |
| ENST00000615111.4:c.784+25_784+26insTAAAC | ENSP00000478291.1:n.784+25_784+26insTAAAC | |
| ENST00000618088.4:c.784+25_784+26insTAAAC | ENSP00000482373.1:n.784+25_784+26insTAAAC | |
| ENST00000620156.4:c.805+25_805+26insTAAAC | ENSP00000483403.1:n.805+25_805+26insTAAAC | |
| ENST00000622294.2:c.784+25_784+26insTAAAC | ENSP00000483926.1:n.784+25_784+26insTAAAC | |
| NM_000163.4:c.784+25_784+26insTAAAC | NP_000154.1:n.784+25_784+26insTAAAC | |
| NM_001242399.2:c.805+25_805+26insTAAAC | NP_001229328.1:n.805+25_805+26insTAAAC | |
| NM_001242400.2:c.784+25_784+26insTAAAC | NP_001229329.1:n.784+25_784+26insTAAAC | |
| NM_001242401.3:c.784+25_784+26insTAAAC | NP_001229330.1:n.784+25_784+26insTAAAC | |
| NM_001242402.2:c.784+25_784+26insTAAAC | NP_001229331.1:n.784+25_784+26insTAAAC | |
| NM_001242403.2:c.784+25_784+26insTAAAC | NP_001229332.1:n.784+25_784+26insTAAAC | |
| NM_001242404.2:c.784+25_784+26insTAAAC | NP_001229333.1:n.784+25_784+26insTAAAC | |
| NM_001242405.2:c.784+25_784+26insTAAAC | NP_001229334.1:n.784+25_784+26insTAAAC | |
| NM_001242406.2:c.784+25_784+26insTAAAC | NP_001229335.1:n.784+25_784+26insTAAAC | |
| NM_001242460.1:c.718+25_718+26insTAAAC | NP_001229389.1:n.718+25_718+26insTAAAC | |
| NM_001242462.1:c.784+25_784+26insTAAAC | NP_001229391.1:n.784+25_784+26insTAAAC | |
| XM_011514031.1:c.739+25_739+26insTAAAC | XP_011512333.1:n.739+25_739+26insTAAAC | |
| NM_000163.5:c.784+25_784+26insTAAAC MANE Select | NP_000154.1:n.784+25_784+26insTAAAC | |
| NM_001242401.4:c.784+25_784+26insTAAAC | NP_001229330.1:n.784+25_784+26insTAAAC | |
| NM_001242403.3:c.784+25_784+26insTAAAC | NP_001229332.1:n.784+25_784+26insTAAAC |