Linked Data
ClinVar Variation Id:
1425452
ClinVar RCV Id:
RCV001926649
dbSNP Id:
rs2153226486
COSMIC:
COSM423036
MyVariant Identifiers:
chr3:g.52437251del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403237del , CM000665.2:g.52403237del | GRCh38 |
| NC_000003.11:g.52437253del , CM000665.1:g.52437253del | GRCh37 |
| NC_000003.10:g.52412293del | NCBI36 |
| NG_031859.1:g.11759del , LRG_529:g.11759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1793del MANE Select | ENSP00000417132.1:p.Pro598GlnfsTer19 | |
| ENST00000296288.9:c.1739del | ENSP00000296288.5:p.Pro580GlnfsTer19 | |
| ENST00000460680.5:c.1793del | ENSP00000417132.1:p.Pro598GlnfsTer19 | |
| ENST00000466093.1:n.200del | ||
| ENST00000469613.5:c.120-394del | ||
| ENST00000478368.1:c.296del | ENSP00000420647.1:p.Pro99GlnfsTer19 | |
| NM_004656.3:c.1793del | NP_004647.1:p.Pro598GlnfsTer19 | |
| XM_011534149.1:c.1793del | XP_011532451.1:p.Pro598GlnfsTer19 | |
| XM_011534150.1:c.1793del | XP_011532452.1:p.Pro598GlnfsTer? | |
| XM_011534151.1:c.1739del | XP_011532453.1:p.Pro580GlnfsTer19 | |
| XM_011534152.1:c.1793del | XP_011532454.1:p.Pro598GlnfsTer24 | |
| XM_011534149.3:c.1793del | XP_011532451.1:p.Pro598GlnfsTer19 | |
| XM_011534150.3:c.1793del | XP_011532452.1:p.Pro598GlnfsTer? | |
| XM_011534151.3:c.1739del | XP_011532453.1:p.Pro580GlnfsTer19 | |
| XM_011534152.2:c.1793del | XP_011532454.1:p.Pro598GlnfsTer24 | |
| XM_017007303.2:c.1739del | XP_016862792.1:p.Pro580GlnfsTer19 | |
| NM_004656.4:c.1793del MANE Select | NP_004647.1:p.Pro598GlnfsTer19 |