Linked Data
ClinVar Variation Id:
916761
ClinVar RCV Id:
RCV001172611
dbSNP Id:
rs1652467199
gnomAD v4:
1-10343292-G-GCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10343294_10343295dup , CM000663.2:g.10343294_10343295dup | GRCh38 |
| NC_000001.10:g.10403352_10403353dup , CM000663.1:g.10403352_10403353dup | GRCh37 |
| NC_000001.9:g.10325939_10325940dup | NCBI36 |
| NG_008069.1:g.137589_137590dup , LRG_252:g.137589_137590dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3550+7_3550+8dup | ENSP00000512668.1:n.3550+7_3550+8dup | |
| ENST00000696503.1:c.3613+7_3613+8dup | ENSP00000512669.1:n.3613+7_3613+8dup | |
| ENST00000696504.1:c.3613+7_3613+8dup | ENSP00000512670.1:n.3613+7_3613+8dup | |
| ENST00000676179.1:c.3688+7_3688+8dup MANE Select | ENSP00000502065.1:n.3688+7_3688+8dup | |
| ENST00000263934.10:c.3550+7_3550+8dup | ENSP00000263934.6:n.3550+7_3550+8dup | |
| ENST00000377081.5:c.3688+7_3688+8dup | ENSP00000366284.1:n.3688+7_3688+8dup | |
| ENST00000377086.5:c.3688+7_3688+8dup | ENSP00000366290.1:n.3688+7_3688+8dup | |
| ENST00000620295.2:c.3646+7_3646+8dup | ENSP00000478500.1:n.3646+7_3646+8dup | |
| ENST00000622724.3:c.3610+7_3610+8dup | ENSP00000480063.1:n.3610+7_3610+8dup | |
| NM_015074.3:c.3550+7_3550+8dup , LRG_252t1:c.3550+7_3550+8dup | NP_055889.2:n.3550+7_3550+8dup | |
| NM_001365951.1:c.3688+7_3688+8dup | NP_001352880.1:n.3688+7_3688+8dup | |
| NM_001365952.1:c.3688+7_3688+8dup | NP_001352881.1:n.3688+7_3688+8dup | |
| NM_001365951.3:c.3688+7_3688+8dup MANE Select | NP_001352880.1:n.3688+7_3688+8dup |