Linked Data
ClinVar Variation Id:
41023
ClinVar RCV Id:
RCV000033920
dbSNP Id:
rs281865129
MyVariant Identifiers:
chr1:g.161275955dupA (hg19)
chr1:g.161275954_161275955insA (hg19)
chr1:g.161306165dupA (hg38)
chr1:g.161306164_161306165insA (hg38)
PubMed:
PMID:20301384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306165dup , CM000663.2:g.161306165dup | GRCh38 |
| NC_000001.10:g.161275955dup , CM000663.1:g.161275955dup | GRCh37 |
| NC_000001.9:g.159542579dup | NCBI36 |
| NG_008055.1:g.8808dup , LRG_256:g.8808dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526189.3:c.507dup | ENSP00000488104.2:p.Met170TyrfsTer? | |
| ENST00000533357.5:c.588dup MANE Select | ENSP00000432943.1:p.Met197TyrfsTer? | |
| ENST00000672287.2:c.-1dup | ENSP00000499818.2:p.Met1TyrfsTer? | |
| ENST00000672602.2:c.588dup | ENSP00000500814.2:p.Met197TyrfsTer? | |
| ENST00000674861.1:n.651dup | ||
| ENST00000463290.5:c.588dup | ENSP00000431538.1:p.Met197TyrfsTer? | |
| ENST00000476410.1:n.48dup | ||
| ENST00000488271.1:n.26dup | ||
| ENST00000491222.5:c.-1dup | ENSP00000431441.1:p.Met1TyrfsTer? | |
| ENST00000526189.2:c.251dup | ||
| ENST00000533357.4:c.588dup | ENSP00000432943.1:p.Met197TyrfsTer? | |
| NM_000530.6:c.588dup , LRG_256t1:c.588dup | NP_000521.2:p.Met197TyrfsTer? | |
| NM_000530.7:c.588dup | NP_000521.2:p.Met197TyrfsTer? | |
| NM_001315491.1:c.588dup | NP_001302420.1:p.Met197TyrfsTer? | |
| XM_017001321.2:c.618dup | XP_016856810.1:p.Met207TyrfsTer23 | |
| NM_000530.8:c.588dup MANE Select | NP_000521.2:p.Met197TyrfsTer? | |
| NM_001315491.2:c.588dup | NP_001302420.1:p.Met197TyrfsTer? |