Linked Data
ClinVar Variation Id:
1065870
ClinVar RCV Id:
RCV001376724
dbSNP Id:
rs1478306331
gnomAD v2:
9-104187845-T-TTTAGCA
gnomAD v4:
9-101425563-T-TTTAGCA
MyVariant Identifiers:
chr9:g.104187845_104187846insTTAGCA (hg19)
chr9:g.101425563_101425564insTTAGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425564_101425569dup , CM000671.2:g.101425564_101425569dup | GRCh38 |
| NC_000009.11:g.104187846_104187851dup , CM000671.1:g.104187846_104187851dup | GRCh37 |
| NC_000009.10:g.103227667_103227672dup | NCBI36 |
| NG_012387.1:g.15212_15217dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.683_688dup MANE Select | ENSP00000497767.1:p.Leu229_Lys230insMetLeu | |
| ENST00000648064.1:c.683_688dup | ENSP00000497990.1:p.Leu229_Lys230insMetLeu | |
| ENST00000648758.1:c.683_688dup | ENSP00000497731.1:p.Leu229_Lys230insMetLeu | |
| ENST00000649902.1:c.683_688dup | ENSP00000497216.1:p.Leu229_Lys230insMetLeu | |
| ENST00000374855.8:c.683_688dup | ENSP00000363988.4:p.Leu229_Lys230insMetLeu | |
| ENST00000468981.3:n.210_215dup | ||
| ENST00000616752.1:c.683_688dup | ENSP00000481363.1:p.Leu229_Lys230insMetLeu | |
| NM_000035.3:c.683_688dup | NP_000026.2:p.Leu229_Lys230insMetLeu | |
| NM_000035.4:c.683_688dup MANE Select | NP_000026.2:p.Leu229_Lys230insMetLeu |