Linked Data
ClinVar Variation Id:
487392
ClinVar RCV Id:
RCV001834824
dbSNP Id:
rs397508163
gnomAD v4:
7-117542025-C-CA
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117542029dup , CM000669.2:g.117542029dup | GRCh38 |
| NC_000007.13:g.117182083dup , CM000669.1:g.117182083dup | GRCh37 |
| NC_000007.12:g.116969319dup | NCBI36 |
| NG_016465.4:g.81246dup , LRG_663:g.81246dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1130dup | ENSP00000497673.2:p.Gln378AlafsTer4 | |
| ENST00000647978.2:c.*1027dup | ENSP00000497658.1:n.*1027dup | |
| ENST00000649781.2:c.1130dup | ENSP00000497203.1:p.Gln378AlafsTer4 | |
| ENST00000685018.2:c.1130dup | ENSP00000510194.2:p.Gln378AlafsTer4 | |
| ENST00000687278.2:c.1130dup | ENSP00000509593.2:p.Gln378AlafsTer4 | |
| ENST00000699585.1:c.1130dup | ENSP00000514456.1:p.Gln378AlafsTer4 | |
| ENST00000699596.1:c.1130dup | ENSP00000514465.1:p.Gln378AlafsTer4 | |
| ENST00000699597.1:c.1130dup | ENSP00000514466.1:p.Gln378AlafsTer4 | |
| ENST00000699598.1:c.1130dup | ENSP00000514467.1:p.Gln378AlafsTer4 | |
| ENST00000699599.1:c.1130dup | ENSP00000514468.1:p.Gln378AlafsTer4 | |
| ENST00000699600.1:c.1130dup | ENSP00000514469.1:p.Gln378AlafsTer4 | |
| ENST00000699601.1:c.1130dup | ENSP00000514470.1:p.Gln378AlafsTer4 | |
| ENST00000699602.1:c.1130dup | ENSP00000514471.1:p.Gln378AlafsTer4 | |
| ENST00000699604.1:c.*954dup | ENSP00000514472.1:n.*954dup | |
| ENST00000699605.1:c.887dup | ENSP00000514473.1:p.Gln297AlafsTer4 | |
| ENST00000003084.11:c.1130dup MANE Select | ENSP00000003084.6:p.Gln378AlafsTer4 | |
| ENST00000647978.1:c.*1027dup | ENSP00000497658.1:n.*1027dup | |
| ENST00000648260.1:c.1130dup | ENSP00000497957.1:p.Gln378AlafsTer4 | |
| ENST00000649406.1:c.1130dup | ENSP00000497965.1:p.Gln378AlafsTer4 | |
| ENST00000649781.1:c.1130dup | ENSP00000497203.1:p.Gln378AlafsTer4 | |
| ENST00000673785.1:c.887dup | ENSP00000501235.1:p.Gln297AlafsTer4 | |
| ENST00000003084.10:c.1130dup | ENSP00000003084.6:p.Gln378AlafsTer4 | |
| ENST00000426809.5:c.1040dup | ENSP00000389119.1:p.Gln348AlafsTer4 | |
| NM_000492.3:c.1130dup , LRG_663t1:c.1130dup | NP_000483.3:p.Gln378AlafsTer4 | |
| XM_011515751.1:c.1220dup | XP_011514053.1:p.Gln408AlafsTer4 | |
| XM_011515752.1:c.1220dup | XP_011514054.1:p.Gln408AlafsTer4 | |
| XM_011515753.1:c.887dup | XP_011514055.1:p.Gln297AlafsTer4 | |
| XM_011515754.1:c.887dup | XP_011514056.1:p.Gln297AlafsTer4 | |
| NM_000492.4:c.1130dup MANE Select | NP_000483.3:p.Gln378AlafsTer4 |