Linked Data
ClinVar Variation Id:
557710
ClinVar RCV Id:
RCV000673884
dbSNP Id:
rs1554643929
gnomAD v4:
9-6556228-G-GTTC
MyVariant Identifiers:
chr9:g.6556229_6556231dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556230_6556232dup , CM000671.2:g.6556230_6556232dup | GRCh38 |
| NC_000009.11:g.6556230_6556232dup , CM000671.1:g.6556230_6556232dup | GRCh37 |
| NC_000009.10:g.6546230_6546232dup | NCBI36 |
| NG_016397.1:g.94462_94464dup , LRG_643:g.94462_94464dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2124_2126dup MANE Select | ENSP00000370737.4:p.Glu708_Asn709insLys | |
| ENST00000638233.1:n.559_561dup | ||
| ENST00000638661.1:c.324_326dup | ENSP00000491369.1:p.Glu108_Asn109insLys | |
| ENST00000638694.1:n.311_313dup | ||
| ENST00000639318.1:c.324_326dup | ENSP00000491932.1:p.Glu108_Asn109insLys | |
| ENST00000639364.1:n.1824_1826dup | ||
| ENST00000639443.1:n.1692_1694dup | ||
| ENST00000639954.1:n.1832_1834dup | ||
| ENST00000640505.1:n.363_365dup | ||
| ENST00000321612.6:c.2124_2126dup | ENSP00000370737.3:p.Glu708_Asn709insLys | |
| NM_000170.2:c.2124_2126dup , LRG_643t1:c.2124_2126dup | NP_000161.2:p.Glu708_Asn709insLys | |
| NM_000170.3:c.2124_2126dup MANE Select | NP_000161.2:p.Glu708_Asn709insLys |