Linked Data
ClinVar Variation Id:
438564
ClinVar RCV Id:
RCV000505422
dbSNP Id:
rs1556071138
PubMed:
PMID:9199930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22178362dup , CM000685.2:g.22178362dup | GRCh38 |
| NC_000023.10:g.22196479dup , CM000685.1:g.22196479dup | GRCh37 |
| NC_000023.9:g.22106400dup | NCBI36 |
| NG_007563.2:g.150559dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682888.1:c.126dup | ENSP00000508003.1:p.Val43ArgfsTer? | |
| ENST00000683162.1:c.126dup | ENSP00000508059.1:p.Val43ArgfsTer? | |
| ENST00000683289.1:c.126dup | ENSP00000508195.1:p.Val43ArgfsTer? | |
| ENST00000683917.1:n.356dup | ||
| ENST00000684356.1:c.126dup | ENSP00000507619.1:p.Val43ArgfsTer? | |
| ENST00000684745.1:n.1246dup | ||
| ENST00000379374.5:c.1572dup MANE Select | ENSP00000368682.4:p.Val525ArgfsTer? | |
| ENST00000379374.4:c.1572dup | ENSP00000368682.4:p.Val525ArgfsTer? | |
| NM_000444.5:c.1572dup | NP_000435.3:p.Val525ArgfsTer? | |
| NM_001282754.1:c.1572dup | NP_001269683.1:p.Val525ArgfsTer? | |
| XM_011545533.1:c.816dup | XP_011543835.1:p.Val273ArgfsTer? | |
| XM_011545534.1:c.816dup | XP_011543836.1:p.Val273ArgfsTer? | |
| XM_011545536.1:c.465dup | XP_011543838.1:p.Val156ArgfsTer? | |
| XM_011545536.2:c.465dup | XP_011543838.1:p.Val156ArgfsTer? | |
| XM_017029579.1:c.816dup | XP_016885068.1:p.Val273ArgfsTer? | |
| XM_024452390.1:c.1281dup | XP_024308158.1:p.Val428ArgfsTer? | |
| XR_001755695.1:n.2412dup | ||
| NM_000444.6:c.1572dup MANE Select | NP_000435.3:p.Val525ArgfsTer? | |
| NM_001282754.2:c.1572dup | NP_001269683.1:p.Val525ArgfsTer? |