Linked Data
ClinVar Variation Id:
8302
dbSNP Id:
rs80338736
gnomAD v2:
19-1399807-T-TGGGGCCCAGTCCC
gnomAD v3:
19-1399808-T-TGGGGCCCAGTCCC
gnomAD v4:
19-1399808-T-TGGGGCCCAGTCCC
MyVariant Identifiers:
chr19:g.1399810_1399822dupGGCCCAGTCCCGG (hg19)
chr19:g.1399807_1399808insGGGGCCCAGTCCC (hg19)
chr19:g.1399811_1399823dupGGCCCAGTCCCGG (hg38)
chr19:g.1399808_1399809insGGGGCCCAGTCCC (hg38)
ERepo:
CA340767/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399811_1399823dup , CM000681.2:g.1399811_1399823dup | GRCh38 |
| NC_000019.9:g.1399810_1399822dup , CM000681.1:g.1399810_1399822dup | GRCh37 |
| NC_000019.8:g.1350810_1350822dup | NCBI36 |
| NG_009785.1:g.6733_6745dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.299_311dup MANE Select | ENSP00000252288.1:p.Arg105GlyfsTer26 | |
| ENST00000447102.8:c.299_311dup | ENSP00000403536.2:p.Arg105GlyfsTer26 | |
| ENST00000640762.1:c.230_242dup | ENSP00000492031.1:p.Arg82GlyfsTer26 | |
| ENST00000252288.6:c.299_311dup | ENSP00000252288.1:p.Arg105GlyfsTer26 | |
| ENST00000447102.7:c.299_311dup | ENSP00000403536.2:p.Arg105GlyfsTer26 | |
| NM_000156.5:c.299_311dup | NP_000147.1:p.Arg105GlyfsTer26 | |
| NM_138924.2:c.299_311dup | NP_620279.1:p.Arg105GlyfsTer26 | |
| NM_000156.6:c.299_311dup MANE Select | NP_000147.1:p.Arg105GlyfsTer26 | |
| NM_138924.3:c.299_311dup | NP_620279.1:p.Arg105GlyfsTer26 |