Linked Data
ClinVar Variation Id:
3642
dbSNP Id:
rs606231139
MyVariant Identifiers:
chr1:g.227153023_227153044delinsTTG (hg19)
chr1:g.226965322_226965343delinsTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226965322_226965343delinsTTG , CM000663.2:g.226965322_226965343delinsTTG | GRCh38 |
| NC_000001.10:g.227153023_227153044delinsTTG , CM000663.1:g.227153023_227153044delinsTTG | GRCh37 |
| NC_000001.9:g.225219646_225219667delinsTTG | NCBI36 |
| NG_012825.1:g.30086_30107delinsTTG | |
| NG_012825.2:g.72787_72808delinsTTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366777.4:c.500_521delinsTTG MANE Select | ENSP00000355739.3:p.Gln167LeufsTer? | |
| ENST00000366779.6:c.*5227_*5248delinsTTG | ENSP00000355741.2:n.*5227_*5248delinsTTG | |
| ENST00000676884.1:c.*5349_*5370delinsTTG | ENSP00000503200.1:n.*5349_*5370delinsTTG | |
| ENST00000366777.3:c.500_521delinsTTG | ENSP00000355739.3:p.Gln167LeufsTer? | |
| ENST00000366778.5:c.344_365delinsTTG | ENSP00000355740.1:p.Gln115LeufsTer? | |
| ENST00000366779.5:c.500_521delinsTTG | ENSP00000355741.1:p.Gln167LeufsTer? | |
| ENST00000478406.5:n.107-12127_107-12106delinsTTG | ||
| ENST00000489044.1:n.711_732delinsTTG | ||
| NM_020247.4:c.500_521delinsTTG | NP_064632.2:p.Gln167LeufsTer? | |
| XM_005273201.1:c.500_521delinsTTG | XP_005273258.1:p.Gln167LeufsTer? | |
| XM_011544238.1:c.500_521delinsTTG | XP_011542540.1:p.Gln167LeufsTer? | |
| XM_011544239.1:c.500_521delinsTTG | XP_011542541.1:p.Gln167LeufsTer? | |
| XM_011544240.1:c.500_521delinsTTG | XP_011542542.1:p.Gln167LeufsTer? | |
| XM_011544241.1:c.500_521delinsTTG | XP_011542543.1:p.Gln167LeufsTer? | |
| XM_011544239.2:c.500_521delinsTTG | XP_011542541.1:p.Gln167LeufsTer? | |
| XM_011544241.2:c.500_521delinsTTG | XP_011542543.1:p.Gln167LeufsTer? | |
| XM_017001852.1:c.500_521delinsTTG | XP_016857341.1:p.Gln167LeufsTer? | |
| XM_024448517.1:c.500_521delinsTTG | XP_024304285.1:p.Gln167LeufsTer? | |
| XM_024448518.1:c.500_521delinsTTG | XP_024304286.1:p.Gln167LeufsTer? | |
| NM_020247.5:c.500_521delinsTTG MANE Select | NP_064632.2:p.Gln167LeufsTer? |