Linked Data
ClinVar Variation Id:
292222
ClinVar RCV Id:
RCV000349222
dbSNP Id:
rs886045190
MyVariant Identifiers:
chr1:g.11850364_11850365insGGTA (hg19)
chr1:g.11790307_11790308insGGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11790307_11790308insGGTA , CM000663.2:g.11790307_11790308insGGTA | GRCh38 |
| NC_000001.10:g.11850364_11850365insGGTA , CM000663.1:g.11850364_11850365insGGTA | GRCh37 |
| NC_000001.9:g.11772951_11772952insGGTA | NCBI36 |
| NG_013351.1:g.20796_20797insTACC , LRG_726:g.20796_20797insTACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.*372_*373insTACC | ENSP00000365770.1:n.*372_*373insTACC | |
| ENST00000376590.9:c.*372_*373insTACC MANE Select | ENSP00000365775.3:n.*372_*373insTACC | |
| ENST00000376592.6:c.*372_*373insTACC | ENSP00000365777.1:n.*372_*373insTACC | |
| ENST00000423400.7:c.*372_*373insTACC | ENSP00000398908.3:n.*372_*373insTACC | |
| ENST00000641446.1:c.*802_*803insTACC | ENSP00000493262.1:n.*802_*803insTACC | |
| ENST00000641747.1:c.*1855_*1856insTACC | ENSP00000493116.1:n.*1855_*1856insTACC | |
| ENST00000641805.1:n.2678_2679insTACC | ||
| ENST00000376583.7:c.2466_2467insTACC | ENSP00000365767.3:n.2466_2467insTACC | |
| ENST00000376585.5:c.*372_*373insTACC | ENSP00000365770.1:n.*372_*373insTACC | |
| ENST00000376590.7:c.*372_*373insTACC | ENSP00000365775.3:n.*372_*373insTACC | |
| ENST00000376592.5:c.*372_*373insTACC | ENSP00000365777.1:n.*372_*373insTACC | |
| NM_005957.4:c.*372_*373insTACC , LRG_726t1:c.*372_*373insTACC | NP_005948.3:n.*372_*373insTACC | |
| XM_005263458.2:c.*372_*373insTACC | XP_005263515.1:n.*372_*373insTACC | |
| XM_005263460.3:c.*372_*373insTACC | XP_005263517.1:n.*372_*373insTACC | |
| XM_005263461.3:c.*372_*373insTACC | XP_005263518.1:n.*372_*373insTACC | |
| XM_005263462.3:c.*372_*373insTACC | XP_005263519.1:n.*372_*373insTACC | |
| XM_005263463.2:c.*372_*373insTACC | XP_005263520.1:n.*372_*373insTACC | |
| XM_011541495.1:c.*372_*373insTACC | XP_011539797.1:n.*372_*373insTACC | |
| XM_011541496.1:c.*232_*233insTACC | XP_011539798.1:n.*232_*233insTACC | |
| NM_001330358.1:c.*372_*373insTACC | NP_001317287.1:n.*372_*373insTACC | |
| XM_005263460.5:c.*372_*373insTACC | XP_005263517.1:n.*372_*373insTACC | |
| XM_005263462.4:c.*372_*373insTACC | XP_005263519.1:n.*372_*373insTACC | |
| XM_005263463.4:c.*372_*373insTACC | XP_005263520.1:n.*372_*373insTACC | |
| XM_011541495.3:c.*372_*373insTACC | XP_011539797.1:n.*372_*373insTACC | |
| XM_011541496.3:c.*232_*233insTACC | XP_011539798.1:n.*232_*233insTACC | |
| XM_024447198.1:c.*372_*373insTACC | XP_024302966.1:n.*372_*373insTACC | |
| NM_005957.5:c.*372_*373insTACC MANE Select | NP_005948.3:n.*372_*373insTACC | |
| NM_001330358.2:c.*372_*373insTACC | NP_001317287.1:n.*372_*373insTACC |