Linked Data
ClinVar Variation Id:
3004433
ClinVar RCV Id:
RCV003866072
dbSNP Id:
rs1486818211
gnomAD v2:
11-44146322-G-GT
gnomAD v3:
11-44124772-G-GT
gnomAD v4:
11-44124772-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44124779dup , CM000673.2:g.44124779dup | GRCh38 |
| NC_000011.9:g.44146329dup , CM000673.1:g.44146329dup | GRCh37 |
| NC_000011.8:g.44102905dup | NCBI36 |
| NG_007560.1:g.34231dup , LRG_494:g.34231dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.744-10dup | ENSP00000342656.3:n.744-10dup | |
| ENST00000395673.8:c.744-10dup | ENSP00000379032.4:n.744-10dup | |
| ENST00000531161.6:n.903-10dup | ||
| ENST00000682359.1:c.744-10dup | ENSP00000508226.1:n.744-10dup | |
| ENST00000682711.1:c.-544+28927dup | ENSP00000506803.1:n.-544+28927dup | |
| ENST00000682815.1:c.744-10dup | ENSP00000507234.1:n.744-10dup | |
| ENST00000682947.1:n.918-10dup | ||
| ENST00000682993.1:c.744-10dup | ENSP00000507580.1:n.744-10dup | |
| ENST00000683000.1:c.744-10dup | ENSP00000508361.1:n.744-10dup | |
| ENST00000683299.1:n.1161-10dup | ||
| ENST00000683870.1:c.744-10dup | ENSP00000507922.1:n.744-10dup | |
| ENST00000683881.1:n.3305-10dup | ||
| ENST00000684039.1:c.744-10dup | ENSP00000507677.1:n.744-10dup | |
| ENST00000684124.1:c.744-10dup | ENSP00000508332.1:n.744-10dup | |
| ENST00000684533.1:c.744-5266dup | ENSP00000507915.1:n.744-5266dup | |
| ENST00000533608.7:c.744-10dup MANE Select | ENSP00000431173.2:n.744-10dup | |
| ENST00000343631.3:c.744-10dup | ENSP00000342656.3:n.744-10dup | |
| ENST00000358681.8:c.744-10dup | ENSP00000351509.4:n.744-10dup | |
| ENST00000395673.7:c.843-10dup | ENSP00000379032.3:n.843-10dup | |
| ENST00000533608.5:c.744-10dup | ENSP00000431173.1:n.744-10dup | |
| NM_000401.3:c.843-10dup , LRG_494t1:c.843-10dup | NP_000392.3:n.843-10dup | |
| NM_001178083.1:c.744-10dup | NP_001171554.1:n.744-10dup | |
| NM_207122.1:c.744-10dup , LRG_494t2:c.744-10dup | NP_997005.1:n.744-10dup | |
| XM_011519950.1:c.882-10dup | XP_011518252.1:n.882-10dup | |
| XM_011519951.1:c.783-10dup | XP_011518253.1:n.783-10dup | |
| XM_024448383.1:c.882-10dup | XP_024304151.1:n.882-10dup | |
| NM_001178083.2:c.744-10dup | NP_001171554.1:n.744-10dup | |
| NM_207122.2:c.744-10dup MANE Select | NP_997005.1:n.744-10dup | |
| NM_001178083.3:c.744-10dup | NP_001171554.1:n.744-10dup | |
| NM_001389628.1:c.744-10dup | NP_001376557.1:n.744-10dup | |
| NM_001389630.1:c.744-10dup | NP_001376559.1:n.744-10dup |