Linked Data
ClinVar Variation Id:
280676
ClinVar RCV Id:
RCV000348754
dbSNP Id:
rs886041841
MyVariant Identifiers:
chr11:g.47463220_47463222delinsTTA (hg19)
chr11:g.47441668_47441670delinsTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441668_47441670delinsTTA , CM000673.2:g.47441668_47441670delinsTTA | GRCh38 |
| NC_000011.9:g.47463220_47463222delinsTTA , CM000673.1:g.47463220_47463222delinsTTA | GRCh37 |
| NC_000011.8:g.47419796_47419798delinsTTA | NCBI36 |
| NG_008312.1:g.12509_12511delinsTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.853_855delinsTAA MANE Select | ENSP00000298854.2:p.Gln285Ter | |
| ENST00000298854.6:c.853_855delinsTAA | ENSP00000298854.2:p.Gln285Ter | |
| ENST00000352508.7:c.789+153_789+155delinsTAA | ENSP00000298853.3:n.789+153_789+155delinsTAA | |
| ENST00000524487.5:c.694_696delinsTAA | ENSP00000435551.2:p.Gln232Ter | |
| ENST00000528356.1:n.62_64delinsTAA | ||
| ENST00000529341.1:c.789+153_789+155delinsTAA | ENSP00000431732.1:n.789+153_789+155delinsTAA | |
| NM_005055.4:c.853_855delinsTAA | NP_005046.2:p.Gln285Ter | |
| NM_032645.4:c.789+153_789+155delinsTAA | NP_116034.2:n.789+153_789+155delinsTAA | |
| XM_005253042.2:c.853_855delinsTAA | XP_005253099.1:p.Gln285Ter | |
| XM_005253043.2:c.789+153_789+155delinsTAA | XP_005253100.1:n.789+153_789+155delinsTAA | |
| XM_011520252.1:c.853_855delinsTAA | XP_011518554.1:p.Gln285Ter | |
| XM_011520253.1:c.853_855delinsTAA | XP_011518555.1:p.Gln285Ter | |
| XM_005253042.3:c.853_855delinsTAA | XP_005253099.1:p.Gln285Ter | |
| XM_005253043.3:c.789+153_789+155delinsTAA | XP_005253100.1:n.789+153_789+155delinsTAA | |
| NM_005055.5:c.853_855delinsTAA MANE Select | NP_005046.2:p.Gln285Ter | |
| NM_032645.5:c.789+153_789+155delinsTAA | NP_116034.2:n.789+153_789+155delinsTAA |