Linked Data
ClinVar Variation Id:
6828
dbSNP Id:
rs786200899
ExAC:
19:39993638 C / CGCGGT
gnomAD v2:
19-39993638-C-CGCGGT
gnomAD v3:
19-39502998-C-CGCGGT
gnomAD v4:
19-39502998-C-CGCGGT
MyVariant Identifiers:
chr19:g.39993644_39993648dupGCGGT (hg19)
chr19:g.39993638_39993639insGCGGT (hg19)
chr19:g.39503004_39503008dupGCGGT (hg38)
chr19:g.39502998_39502999insGCGGT (hg38)
PubMed:
PMID:10742114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39503004_39503008dup , CM000681.2:g.39503004_39503008dup | GRCh38 |
| NC_000019.9:g.39993644_39993648dup , CM000681.1:g.39993644_39993648dup | GRCh37 |
| NC_000019.8:g.44685484_44685488dup | NCBI36 |
| NG_008256.1:g.9088_9092dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356433.10:c.599_603dup MANE Select | ENSP00000348810.4:p.Pro202AlafsTer? | |
| ENST00000205143.4:c.599_603dup | ENSP00000205143.3:p.Pro202AlafsTer? | |
| ENST00000356433.9:c.599_603dup | ENSP00000348810.4:p.Pro202AlafsTer? | |
| ENST00000596614.5:c.409+2332_409+2336dup | ENSP00000471688.1:n.409+2332_409+2336dup | |
| ENST00000600437.1:n.679_683dup | ||
| NM_016941.3:c.599_603dup | NP_058637.1:p.Pro202AlafsTer? | |
| NM_203486.2:c.599_603dup | NP_982353.1:p.Pro202AlafsTer? | |
| NM_016941.4:c.599_603dup | NP_058637.1:p.Pro202AlafsTer? | |
| NM_203486.3:c.599_603dup MANE Select | NP_982353.1:p.Pro202AlafsTer? |