Linked Data
ClinVar Variation Id:
157563
ClinVar RCV Id:
RCV000144907
dbSNP Id:
rs672601343
PubMed:
PMID:21191406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31116873del , CM000668.2:g.31116873del | GRCh38 |
| NC_000006.11:g.31084650del , CM000668.1:g.31084650del | GRCh37 |
| NC_000006.10:g.31192629del | NCBI36 |
| NG_012192.1:g.8578del | |
| NG_021348.1:g.7043del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259881.10:c.-229+1982del (PSORS1C1) MANE Select | ENSP00000259881.9:n.-229+1982del | |
| ENST00000376288.3:c.746del (CDSN) MANE Select | ENSP00000365465.2:p.Gly249ValfsTer? | |
| ENST00000259881.9:c.-229+1982del (PSORS1C1) | ENSP00000259881.9:n.-229+1982del | |
| ENST00000376288.2:c.746del (CDSN) | ENSP00000365465.2:p.Gly249ValfsTer? | |
| ENST00000467107.1:n.1880del (PSORS1C1) | ||
| ENST00000479581.5:n.61+1982del (PSORS1C1) | ||
| ENST00000493289.1:n.68-217del (PSORS1C1) | ||
| ENST00000548049.1:n.119+1982del (PSORS1C1) | ||
| ENST00000550838.1:n.58+1982del (PSORS1C1) | ||
| ENST00000552747.1:n.53+1982del (PSORS1C1) | ||
| NM_001264.4:c.746del (CDSN) | NP_001255.3:p.Gly249ValfsTer? | |
| NM_014068.2:c.-229+1982del (PSORS1C1) | NP_054787.2:n.-229+1982del | |
| NM_001264.5:c.746del (CDSN) MANE Select | NP_001255.4:p.Gly249ValfsTer? | |
| NM_014068.3:c.-229+1982del (PSORS1C1) MANE Select | NP_054787.2:n.-229+1982del |