Linked Data
ClinVar Variation Id:
30954
ClinVar RCV Id:
RCV000023944
dbSNP Id:
rs786205117
MyVariant Identifiers:
chr22:g.51019972dupA (hg19)
chr22:g.51019971_51019972insA (hg19)
chr22:g.50581543dupA (hg38)
chr22:g.50581542_50581543insA (hg38)
PubMed:
PMID:21665002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50581544dup , CM000684.2:g.50581544dup | GRCh38 |
| NC_000022.10:g.51019973dup , CM000684.1:g.51019973dup | GRCh37 |
| NC_000022.9:g.49366839dup | NCBI36 |
| NG_012643.1:g.2125dup | |
| NG_029213.1:g.6457dup , LRG_855:g.6457dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406938.3:c.458dup (CHKB) MANE Select | ENSP00000384400.3:p.Leu153PhefsTer? | |
| ENST00000406938.2:c.458dup (CHKB) | ENSP00000384400.2:p.Leu153PhefsTer? | |
| ENST00000463053.1:n.607dup (CHKB) | ||
| ENST00000468532.5:n.335dup (CHKB) | ||
| ENST00000476289.5:n.731dup (CHKB) | ||
| ENST00000479003.5:n.1083dup (CHKB) | ||
| ENST00000481673.5:n.908dup (CHKB) | ||
| ENST00000484266.5:n.576+706dup (CHKB) | ||
| ENST00000492556.5:n.1228dup (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1117dup (CHKB) | ||
| NM_005198.4:c.458dup , LRG_855t1:c.458dup (CHKB) | NP_005189.2:p.Leu153PhefsTer? | |
| NR_027928.2:n.676dup (CHKB-CPT1B) | ||
| NM_005198.5:c.458dup (CHKB) MANE Select | NP_005189.2:p.Leu153PhefsTer? |