Linked Data
ClinVar Variation Id:
157564
ClinVar RCV Id:
RCV003556182
dbSNP Id:
rs606231274
gnomAD v2:
6-31085224-G-GAGGC
gnomAD v3:
6-31117447-G-GAGGC
gnomAD v4:
6-31117447-G-GAGGC
MyVariant Identifiers:
chr6:g.31085225_31085228dupAGGC (hg19)
chr6:g.31085224_31085225insAGGC (hg19)
chr6:g.31117448_31117451dupAGGC (hg38)
chr6:g.31117447_31117448insAGGC (hg38)
PubMed:
PMID:22146835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31117451_31117454dup , CM000668.2:g.31117451_31117454dup | GRCh38 |
| NC_000006.11:g.31085228_31085231dup , CM000668.1:g.31085228_31085231dup | GRCh37 |
| NC_000006.10:g.31193207_31193210dup | NCBI36 |
| NG_012192.1:g.7996_7999dup | |
| NG_021348.1:g.7621_7624dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259881.10:c.-229+2560_-229+2563dup (PSORS1C1) MANE Select | ENSP00000259881.9:n.-229+2560_-229+2563du... | |
| ENST00000376288.3:c.164_167dup (CDSN) MANE Select | ENSP00000365465.2:p.Thr57ProfsTer6 | |
| ENST00000259881.9:c.-229+2560_-229+2563dup (PSORS1C1) | ENSP00000259881.9:n.-229+2560_-229+2563du... | |
| ENST00000376288.2:c.164_167dup (CDSN) | ENSP00000365465.2:p.Thr57ProfsTer6 | |
| ENST00000467107.1:n.2458_2461dup (PSORS1C1) | ||
| ENST00000479581.5:n.61+2560_61+2563dup (PSORS1C1) | ||
| ENST00000548049.1:n.119+2560_119+2563dup (PSORS1C1) | ||
| ENST00000550838.1:n.58+2560_58+2563dup (PSORS1C1) | ||
| ENST00000552747.1:n.53+2560_53+2563dup (PSORS1C1) | ||
| NM_001264.4:c.164_167dup (CDSN) | NP_001255.3:p.Thr57ProfsTer6 | |
| NM_014068.2:c.-229+2560_-229+2563dup (PSORS1C1) | NP_054787.2:n.-229+2560_-229+2563dup | |
| NM_001264.5:c.164_167dup (CDSN) MANE Select | NP_001255.4:p.Thr57ProfsTer6 | |
| NM_014068.3:c.-229+2560_-229+2563dup (PSORS1C1) MANE Select | NP_054787.2:n.-229+2560_-229+2563dup |