Linked Data
ClinVar Variation Id:
372115
ClinVar RCV Id:
RCV000412654
dbSNP Id:
rs1057517658
gnomAD v2:
11-62472829-G-GAA
gnomAD v4:
11-62705357-G-GAA
MyVariant Identifiers:
chr11:g.62472830_62472831dupAA (hg19)
chr11:g.62472829_62472830insAA (hg19)
chr11:g.62705358_62705359dupAA (hg38)
chr11:g.62705357_62705358insAA (hg38)
PubMed:
PMID:20301391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62705358_62705359dup , CM000673.2:g.62705358_62705359dup | GRCh38 |
| NC_000011.9:g.62472830_62472831dup , CM000673.1:g.62472830_62472831dup | GRCh37 |
| NC_000011.8:g.62229406_62229407dup | NCBI36 |
| NG_008461.1:g.9216_9217dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449636.6:c.-89+1750_-89+1751dup (BSCL2) | ENSP00000405265.2:n.-89+1750_-89+1751dup | |
| ENST00000524862.6:c.346_347dup (BSCL2) | ENSP00000433888.2:p.Tyr117SerfsTer? | |
| ENST00000682223.1:c.346_347dup (BSCL2) | ENSP00000508140.1:p.Tyr117SerfsTer? | |
| ENST00000682262.1:c.346_347dup (BSCL2) | ENSP00000507103.1:p.Tyr117SerfsTer? | |
| ENST00000682555.1:c.346_347dup (BSCL2) | ENSP00000507814.1:p.Tyr117SerfsTer? | |
| ENST00000682644.1:n.738_739dup (BSCL2) | ||
| ENST00000682794.1:n.738_739dup (BSCL2) | ||
| ENST00000683025.1:c.346_347dup (BSCL2) | ENSP00000507028.1:p.Tyr117SerfsTer? | |
| ENST00000683296.1:c.346_347dup (BSCL2) | ENSP00000507725.1:p.Tyr117SerfsTer? | |
| ENST00000683494.1:n.738_739dup (BSCL2) | ||
| ENST00000683892.1:n.848_849dup (BSCL2) | ||
| ENST00000684067.1:c.346_347dup (BSCL2) | ENSP00000506799.1:p.Tyr117SerfsTer? | |
| ENST00000684115.1:n.738_739dup (BSCL2) | ||
| ENST00000684285.1:c.346_347dup (BSCL2) | ENSP00000507669.1:p.Tyr117SerfsTer? | |
| ENST00000684475.1:c.346_347dup (BSCL2) | ENSP00000507429.1:p.Tyr117SerfsTer? | |
| ENST00000684609.1:n.738_739dup (BSCL2) | ||
| ENST00000684720.1:n.738_739dup (BSCL2) | ||
| ENST00000360796.10:c.346_347dup (BSCL2) MANE Select | ENSP00000354032.5:p.Tyr117SerfsTer? | |
| ENST00000679883.1:c.346_347dup (BSCL2) | ENSP00000505838.1:p.Tyr117SerfsTer? | |
| ENST00000278893.11:c.154_155dup (BSCL2) | ENSP00000278893.7:p.Tyr53SerfsTer? | |
| ENST00000301781.10:c.346_347dup (BSCL2) | ENSP00000301781.5:p.Tyr117SerfsTer? | |
| ENST00000360796.9:c.346_347dup (BSCL2) | ENSP00000354032.5:p.Tyr117SerfsTer? | |
| ENST00000403550.5:c.154_155dup (BSCL2) | ENSP00000385561.1:p.Tyr53SerfsTer? | |
| ENST00000403734.2:c.*397_*398dup (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*397_*398dup | |
| ENST00000405837.5:c.346_347dup (BSCL2) | ENSP00000385332.1:p.Tyr117SerfsTer? | |
| ENST00000407022.7:c.154_155dup (BSCL2) | ENSP00000384080.3:p.Tyr53SerfsTer? | |
| ENST00000421906.5:c.154_155dup (BSCL2) | ENSP00000413209.1:p.Tyr53SerfsTer? | |
| ENST00000448568.6:c.154_155dup (BSCL2) | ENSP00000413340.2:p.Tyr53SerfsTer? | |
| ENST00000524862.5:c.346_347dup (BSCL2) | ENSP00000433888.1:p.Tyr117SerfsTer? | |
| ENST00000525000.5:c.36+1750_36+1751dup (BSCL2) | ||
| ENST00000530900.1:n.204+109_204+110dup (BSCL2) | ||
| ENST00000531524.5:c.87+1750_87+1751dup (BSCL2) | ENSP00000436026.1:n.87+1750_87+1751dup | |
| ENST00000532818.5:c.346_347dup (BSCL2) | ENSP00000435831.1:p.Tyr117SerfsTer? | |
| ENST00000533982.1:c.154_155dup (BSCL2) | ENSP00000434149.1:p.Tyr53SerfsTer? | |
| ENST00000537604.5:n.455+109_455+110dup (BSCL2) | ||
| NM_001122955.3:c.346_347dup (BSCL2) | NP_001116427.1:p.Tyr117SerfsTer? | |
| NM_001130702.2:c.154_155dup (BSCL2) | NP_001124174.2:p.Tyr53SerfsTer? | |
| NM_032667.6:c.154_155dup (BSCL2) | NP_116056.3:p.Tyr53SerfsTer? | |
| NR_037946.1:n.2866_2867dup (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.948_949dup (BSCL2) | ||
| NR_037949.1:n.948_949dup (BSCL2) | ||
| NM_001122955.4:c.346_347dup (BSCL2) MANE Select | NP_001116427.1:p.Tyr117SerfsTer? | |
| NM_001386027.1:c.346_347dup (BSCL2) | NP_001372956.1:p.Tyr117SerfsTer? | |
| NM_001386028.1:c.346_347dup (BSCL2) | NP_001372957.1:p.Tyr117SerfsTer? |