Linked Data
ClinVar Variation Id:
56186
ClinVar RCV Id:
RCV000049597
dbSNP Id:
rs386833638
MyVariant Identifiers:
chr1:g.40557792_40557808delinsAA (hg19)
chr1:g.40092120_40092136delinsAA (hg38)
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092120_40092136delinsAA , CM000663.2:g.40092120_40092136delinsAA | GRCh38 |
| NC_000001.10:g.40557792_40557808delinsAA , CM000663.1:g.40557792_40557808delinsAA | GRCh37 |
| NC_000001.9:g.40330379_40330395delinsAA | NCBI36 |
| NG_009192.1:g.10335_10351delinsTT , LRG_690:g.10335_10351delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.*107_*123delinsTT | ENSP00000361865.5:n.*107_*123delinsTT | |
| ENST00000433473.8:c.268_284delinsTT | ENSP00000394863.4:p.Gln90_Cys95delinsPhe | |
| ENST00000439754.6:c.271_287delinsTT | ENSP00000403207.2:p.Gln91_Cys96delinsPhe | |
| ENST00000449045.7:c.125-2624_125-2608delinsTT | ENSP00000392293.2:n.125-2624_125-2608deli... | |
| ENST00000526547.2:c.551_567delinsTT | ||
| ENST00000527311.7:c.234+262_234+278delinsTT | ENSP00000436695.3:n.234+262_234+278delins... | |
| ENST00000530704.6:c.271_287delinsTT | ENSP00000431655.1:p.Gln91_Cys96delinsPhe | |
| ENST00000641083.1:c.249_265delinsTT | ||
| ENST00000641236.1:n.508_524delinsTT | ||
| ENST00000641319.1:c.271_287delinsTT | ENSP00000493128.1:p.Gln91_Cys96delinsPhe | |
| ENST00000641471.1:c.358_374delinsTT | ENSP00000493146.1:p.Gln120_Cys125delinsPh... | |
| ENST00000641548.1:c.*123_*139delinsTT | ENSP00000492984.1:n.*123_*139delinsTT | |
| ENST00000641691.1:c.*123_*139delinsTT | ENSP00000492910.1:n.*123_*139delinsTT | |
| ENST00000641924.1:c.124+4979_124+4995delinsTT | ENSP00000493063.1:n.124+4979_124+4995deli... | |
| ENST00000642050.2:c.271_287delinsTT MANE Select | ENSP00000493153.1:p.Gln91_Cys96delinsPhe | |
| ENST00000372779.8:c.358_374delinsTT | ENSP00000361865.4:p.Gln120_Cys125delinsPh... | |
| ENST00000433473.7:c.271_287delinsTT | ENSP00000394863.3:p.Gln91_Cys96delinsPhe | |
| ENST00000449045.6:c.125-2624_125-2608delinsTT | ENSP00000392293.2:n.125-2624_125-2608deli... | |
| ENST00000526547.1:c.121_137delinsTT | ENSP00000436481.1:p.Gln41_Cys46delinsPhe | |
| ENST00000527311.6:c.125-79_125-63delinsTT | ENSP00000436695.2:n.125-79_125-63delinsTT... | |
| ENST00000529905.5:c.271_287delinsTT | ENSP00000432053.1:p.Gln91_Cys96delinsPhe | |
| ENST00000530704.5:c.271_287delinsTT | ENSP00000431655.1:p.Gln91_Cys96delinsPhe | |
| NM_000310.3:c.271_287delinsTT , LRG_690t1:c.271_287delinsTT | NP_000301.1:p.Gln91_Cys96delinsPhe | |
| NM_001142604.1:c.125-2624_125-2608delinsTT | NP_001136076.1:n.125-2624_125-2608delinsT... | |
| XM_005271008.1:c.271_287delinsTT | XP_005271065.1:p.Gln91_Cys96delinsPhe | |
| NM_001363695.1:c.271_287delinsTT | NP_001350624.1:p.Gln91_Cys96delinsPhe | |
| NM_000310.4:c.271_287delinsTT MANE Select | NP_000301.1:p.Gln91_Cys96delinsPhe | |
| NM_001142604.2:c.125-2624_125-2608delinsTT | NP_001136076.1:n.125-2624_125-2608delinsT... | |
| NM_001363695.2:c.271_287delinsTT | NP_001350624.1:p.Gln91_Cys96delinsPhe |