Linked Data
ClinVar Variation Id:
53308
ClinVar RCV Id:
RCV000577584
dbSNP Id:
rs397508244
MyVariant Identifiers:
chr7:g.117144421dupT (hg19)
chr7:g.117144420_117144421insT (hg19)
chr7:g.117504367dupT (hg38)
chr7:g.117504366_117504367insT (hg38)
PubMed:
PMID:17331079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117504367dup , CM000669.2:g.117504367dup | GRCh38 |
| NC_000007.13:g.117144421dup , CM000669.1:g.117144421dup | GRCh37 |
| NC_000007.12:g.116931657dup | NCBI36 |
| NG_016465.4:g.43584dup , LRG_663:g.43584dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.164+4dup | ENSP00000497673.2:n.164+4dup | |
| ENST00000647978.2:c.164+4dup | ENSP00000497658.1:n.164+4dup | |
| ENST00000649781.2:c.164+4dup | ENSP00000497203.1:n.164+4dup | |
| ENST00000649850.2:c.164+4dup | ENSP00000514457.1:n.164+4dup | |
| ENST00000685018.2:c.164+4dup | ENSP00000510194.2:n.164+4dup | |
| ENST00000687278.2:c.164+4dup | ENSP00000509593.2:n.164+4dup | |
| ENST00000693465.2:n.249+4dup | ||
| ENST00000699585.1:c.164+4dup | ENSP00000514456.1:n.164+4dup | |
| ENST00000699596.1:c.164+4dup | ENSP00000514465.1:n.164+4dup | |
| ENST00000699597.1:c.164+4dup | ENSP00000514466.1:n.164+4dup | |
| ENST00000699598.1:c.164+4dup | ENSP00000514467.1:n.164+4dup | |
| ENST00000699599.1:c.164+4dup | ENSP00000514468.1:n.164+4dup | |
| ENST00000699600.1:c.164+4dup | ENSP00000514469.1:n.164+4dup | |
| ENST00000699601.1:c.164+4dup | ENSP00000514470.1:n.164+4dup | |
| ENST00000699602.1:c.164+4dup | ENSP00000514471.1:n.164+4dup | |
| ENST00000699604.1:c.164+4dup | ENSP00000514472.1:n.164+4dup | |
| ENST00000699605.1:c.-80+4dup | ENSP00000514473.1:n.-80+4dup | |
| ENST00000446805.2:c.-80+4dup | ENSP00000417012.1:n.-80+4dup | |
| ENST00000693465.1:n.234+4dup | ||
| ENST00000003084.11:c.164+4dup MANE Select | ENSP00000003084.6:n.164+4dup | |
| ENST00000647639.1:n.248+4dup | ||
| ENST00000647978.1:c.164+4dup | ENSP00000497658.1:n.164+4dup | |
| ENST00000648260.1:c.164+4dup | ENSP00000497957.1:n.164+4dup | |
| ENST00000649406.1:c.164+4dup | ENSP00000497965.1:n.164+4dup | |
| ENST00000649781.1:c.164+4dup | ENSP00000497203.1:n.164+4dup | |
| ENST00000649850.1:n.247+4dup | ||
| ENST00000673785.1:c.-80+4dup | ENSP00000501235.1:n.-80+4dup | |
| ENST00000003084.10:c.164+4dup | ENSP00000003084.6:n.164+4dup | |
| ENST00000426809.5:c.164+4dup | ENSP00000389119.1:n.164+4dup | |
| ENST00000446805.1:c.-80+4dup | ENSP00000417012.1:n.-80+4dup | |
| NM_000492.3:c.164+4dup , LRG_663t1:c.164+4dup | NP_000483.3:n.164+4dup | |
| XM_011515751.1:c.254+4dup | XP_011514053.1:n.254+4dup | |
| XM_011515752.1:c.254+4dup | XP_011514054.1:n.254+4dup | |
| XM_011515753.1:c.-80+4dup | XP_011514055.1:n.-80+4dup | |
| XM_011515754.1:c.-154+4dup | XP_011514056.1:n.-154+4dup | |
| NM_000492.4:c.164+4dup MANE Select | NP_000483.3:n.164+4dup |