Linked Data
dbSNP Id:
rs1306148335
gnomAD v3:
10-86899955-G-GGCTA
gnomAD v4:
10-86899955-G-GGCTA
MyVariant Identifiers:
chr10:g.88659712_88659713insGCTA (hg19)
chr10:g.86899955_86899956insGCTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86899956_86899959dup , CM000672.2:g.86899956_86899959dup | GRCh38 |
| NC_000010.10:g.88659713_88659716dup , CM000672.1:g.88659713_88659716dup | GRCh37 |
| NC_000010.9:g.88649693_88649696dup | NCBI36 |
| NG_009362.1:g.148318_148321dup , LRG_298:g.148318_148321dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.430+66_431-68dup | ENSP00000483569.2:n.430+66_431-68dup | |
| ENST00000635816.2:c.430+66_431-68dup | ENSP00000489707.1:n.430+66_431-68dup | |
| ENST00000636056.2:c.430+66_431-68dup | ENSP00000490273.1:n.430+66_431-68dup | |
| ENST00000372037.8:c.430+66_431-68dup MANE Select | ENSP00000361107.2:n.430+66_431-68dup | |
| ENST00000635816.1:c.430+66_431-68dup | ENSP00000489707.1:n.430+66_431-68dup | |
| ENST00000636056.1:c.430+66_431-68dup | ENSP00000490273.1:n.430+66_431-68dup | |
| ENST00000638429.1:c.430+66_431-68dup | ENSP00000492290.1:n.430+66_431-68dup | |
| ENST00000372037.7:c.430+66_431-68dup | ENSP00000361107.1:n.430+66_431-68dup | |
| NM_004329.2:c.430+66_431-68dup , LRG_298t1:c.430+66_431-68dup | NP_004320.2:n.430+66_431-68dup | |
| XM_011540103.1:c.430+66_431-68dup | XP_011538405.1:n.430+66_431-68dup | |
| XM_011540104.1:c.430+66_431-68dup | XP_011538406.1:n.430+66_431-68dup | |
| XM_011540103.2:c.430+66_431-68dup | XP_011538405.1:n.430+66_431-68dup | |
| XM_011540104.2:c.430+66_431-68dup | XP_011538406.1:n.430+66_431-68dup | |
| NM_004329.3:c.430+66_431-68dup MANE Select | NP_004320.2:n.430+66_431-68dup |