Linked Data
ClinVar Variation Id:
422434
ClinVar RCV Id:
RCV000483890
dbSNP Id:
rs1064795778
MyVariant Identifiers:
chr8:g.119123224_119123225insTT (hg19)
chr8:g.118110985_118110986insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110985_118110986insTT , CM000670.2:g.118110985_118110986insTT | GRCh38 |
| NC_000008.10:g.119123224_119123225insTT , CM000670.1:g.119123224_119123225insTT | GRCh37 |
| NC_000008.9:g.119192405_119192406insTT | NCBI36 |
| NG_007455.2:g.5834_5835insAA , LRG_493:g.5834_5835insAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378204.7:c.61_62insAA MANE Select | ENSP00000367446.3:p.Phe21Ter | |
| ENST00000378204.6:c.61_62insAA | ENSP00000367446.2:p.Phe21Ter | |
| ENST00000437196.1:c.61_62insAA | ENSP00000407299.1:p.Phe21Ter | |
| NM_000127.2:c.61_62insAA , LRG_493t1:c.61_62insAA | NP_000118.2:p.Phe21Ter | |
| NM_000127.3:c.61_62insAA MANE Select | NP_000118.2:p.Phe21Ter |