Linked Data
ClinVar Variation Id:
428245
ClinVar RCV Id:
RCV000491921
dbSNP Id:
rs1114167661
PubMed:
PMID:21659347
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957975dup , CM000672.2:g.87957975dup | GRCh38 |
| NC_000010.10:g.89717732dup , CM000672.1:g.89717732dup | GRCh37 |
| NC_000010.9:g.89707712dup | NCBI36 |
| NG_007466.2:g.99537dup , LRG_311:g.99537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.757dup | ENSP00000514759.2:p.Ile253AsnfsTer? | |
| ENST00000710265.1:c.757dup | ENSP00000518161.1:p.Ile253AsnfsTer? | |
| ENST00000472832.3:c.757dup | ENSP00000483066.2:p.Ile253AsnfsTer? | |
| ENST00000688158.2:n.1492dup | ||
| ENST00000688922.2:c.*587dup | ENSP00000508742.2:n.*587dup | |
| ENST00000700021.1:c.712dup | ENSP00000514757.1:p.Ile238AsnfsTer? | |
| ENST00000700022.1:c.*96dup | ENSP00000514758.1:n.*96dup | |
| ENST00000700023.1:n.1915dup | ||
| ENST00000700024.1:n.2149dup | ||
| ENST00000700025.1:n.1526dup | ||
| ENST00000700026.1:n.394dup | ||
| ENST00000700029.1:c.591dup | ||
| ENST00000706954.1:c.757dup | ENSP00000516674.1:p.Ile253AsnfsTer? | |
| ENST00000706955.1:c.*792dup | ENSP00000516675.1:n.*792dup | |
| ENST00000686459.1:c.*343dup | ENSP00000508909.1:n.*343dup | |
| ENST00000688158.1:c.*868dup | ENSP00000509254.1:n.*868dup | |
| ENST00000688308.1:c.757dup | ENSP00000508752.1:p.Ile253AsnfsTer? | |
| ENST00000688922.1:c.678dup | ||
| ENST00000693560.1:c.1276dup | ENSP00000509861.1:p.Ile426AsnfsTer? | |
| ENST00000371953.8:c.757dup MANE Select | ENSP00000361021.3:p.Ile253AsnfsTer? | |
| ENST00000371953.7:c.757dup | ENSP00000361021.3:p.Ile253AsnfsTer? | |
| ENST00000472832.2:c.184dup | ENSP00000483066.1:p.Ile62AsnfsTer? | |
| NM_000314.5:c.757dup | NP_000305.3:p.Ile253AsnfsTer? | |
| NM_000314.6:c.757dup | NP_000305.3:p.Ile253AsnfsTer? | |
| NM_001304717.2:c.1276dup | NP_001291646.2:p.Ile426AsnfsTer? | |
| NM_001304718.1:c.166dup | NP_001291647.1:p.Ile56AsnfsTer? | |
| XM_006717926.2:c.712dup | XP_006717989.1:p.Ile238AsnfsTer? | |
| XM_011539981.1:c.757dup | XP_011538283.1:p.Ile253AsnfsTer? | |
| XM_011539982.1:c.661dup | XP_011538284.1:p.Ile221AsnfsTer? | |
| XR_945791.1:n.1327dup | ||
| NM_000314.7:c.757dup | NP_000305.3:p.Ile253AsnfsTer? | |
| NM_001304717.5:c.1276dup | NP_001291646.4:p.Ile426AsnfsTer? | |
| NM_001304718.2:c.166dup | NP_001291647.1:p.Ile56AsnfsTer? | |
| NM_000314.8:c.757dup MANE Select | NP_000305.3:p.Ile253AsnfsTer? |