Linked Data
ClinVar Variation Id:
56236
ClinVar RCV Id:
RCV000049648
dbSNP Id:
rs386833687
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422391del , CM000665.2:g.49422391del | GRCh38 |
| NC_000003.11:g.49459824del , CM000665.1:g.49459824del | GRCh37 |
| NC_000003.10:g.49434828del | NCBI36 |
| NG_015986.1:g.5289del , LRG_537:g.5289del | |
| NG_033046.1:g.11935del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273588.9:c.61del (AMT) MANE Select | ENSP00000273588.3:p.Ala21ProfsTer? | |
| ENST00000273598.8:c.*2443del (NICN1) MANE Select | ENSP00000273598.4:n.*2443del | |
| ENST00000395338.7:c.61del (AMT) | ENSP00000378747.2:p.Ala21ProfsTer? | |
| ENST00000399379.7:c.31del (AMT) | ENSP00000399943.2:p.Ala11ProfsTer19 | |
| ENST00000427987.6:c.-70del (AMT) | ENSP00000403821.2:n.-70del | |
| ENST00000430521.2:c.61del (AMT) | ENSP00000388068.2:p.Ala21ProfsTer? | |
| ENST00000462048.2:c.-102+49del (AMT) | ENSP00000490465.1:n.-102+49del | |
| ENST00000465925.6:n.80del (AMT) | ||
| ENST00000473163.2:n.74del (AMT) | ||
| ENST00000476226.6:n.74del (AMT) | ||
| ENST00000478594.6:n.80del (AMT) | ||
| ENST00000480957.6:n.79del (AMT) | ||
| ENST00000485108.6:n.221-119del | ||
| ENST00000491800.3:n.83del (AMT) | ||
| ENST00000493046.6:n.69del (AMT) | ||
| ENST00000538581.6:c.-70del (AMT) | ENSP00000443200.2:n.-70del | |
| ENST00000635772.1:n.65del (AMT) | ||
| ENST00000635808.1:c.61del (AMT) | ENSP00000489620.1:p.Ala21ProfsTer? | |
| ENST00000635889.1:n.84del (AMT) | ||
| ENST00000636023.1:c.61del (AMT) | ENSP00000489969.1:p.Ala21ProfsTer? | |
| ENST00000636070.1:c.61del (AMT) | ENSP00000490160.1:p.Ala21ProfsTer? | |
| ENST00000636148.1:n.42del (AMT) | ||
| ENST00000636166.1:c.496-818del | ENSP00000490106.1:n.496-818del | |
| ENST00000636199.1:c.61del (AMT) | ENSP00000490871.1:p.Ala21ProfsTer? | |
| ENST00000636204.1:n.1254del | ||
| ENST00000636461.1:c.3084del | ||
| ENST00000636522.1:c.61del (AMT) | ENSP00000489758.1:p.Ala21ProfsTer19 | |
| ENST00000636587.1:n.204del (AMT) | ||
| ENST00000636597.1:c.61del (AMT) | ENSP00000490251.1:p.Ala21ProfsTer? | |
| ENST00000636725.1:n.65del (AMT) | ||
| ENST00000636803.1:n.65del (AMT) | ||
| ENST00000636865.1:c.-70del (AMT) | ENSP00000490601.1:n.-70del | |
| ENST00000636871.1:n.4del (AMT) | ||
| ENST00000636978.1:n.65del (AMT) | ||
| ENST00000636991.1:n.84del (AMT) | ||
| ENST00000637088.1:n.3527del | ||
| ENST00000637114.1:n.53del (AMT) | ||
| ENST00000637268.1:n.80del (AMT) | ||
| ENST00000637291.1:n.69del (AMT) | ||
| ENST00000637442.1:n.1467del | ||
| ENST00000637457.1:n.102del (AMT) | ||
| ENST00000637682.1:c.61del (AMT) | ENSP00000489856.1:p.Ala21ProfsTer? | |
| ENST00000637684.1:n.74del (AMT) | ||
| ENST00000637821.1:c.61del (AMT) | ENSP00000490482.1:p.Ala21ProfsTer? | |
| ENST00000637914.1:n.80del (AMT) | ||
| ENST00000637994.1:n.71del (AMT) | ||
| ENST00000638014.1:c.2753del | ||
| ENST00000638063.1:c.61del (AMT) | ENSP00000489760.1:p.Ala21ProfsTer? | |
| ENST00000638079.1:c.*607-119del | ENSP00000490120.1:n.*607-119del | |
| ENST00000638092.1:n.65del (AMT) | ||
| ENST00000638115.1:c.*1852-119del | ENSP00000490296.1:n.*1852-119del | |
| ENST00000273588.7:c.61del (AMT) | ENSP00000273588.3:p.Ala21ProfsTer? | |
| ENST00000395338.6:c.61del (AMT) | ENSP00000378747.2:p.Ala21ProfsTer? | |
| ENST00000399379.6:c.61del (AMT) | ENSP00000399943.1:p.Ala21ProfsTer? | |
| ENST00000427987.5:c.53del (AMT) | ||
| ENST00000430521.1:c.61del (AMT) | ENSP00000388068.1:p.Ala21ProfsTer19 | |
| ENST00000458307.6:c.61del (AMT) | ENSP00000415619.2:p.Ala21ProfsTer? | |
| ENST00000462048.1:n.247+49del (AMT) | ||
| ENST00000476226.5:n.140del (AMT) | ||
| ENST00000478594.5:n.69del (AMT) | ||
| ENST00000480957.5:n.69del (AMT) | ||
| ENST00000485108.5:n.69del (AMT) | ||
| ENST00000487589.5:n.74del (AMT) | ||
| ENST00000493046.5:n.62del (AMT) | ||
| ENST00000495436.5:n.62del (AMT) | ||
| ENST00000498571.1:n.59del (AMT) | ||
| ENST00000538581.5:c.61del (AMT) | ENSP00000443200.1:p.Ala21ProfsTer19 | |
| NM_000481.3:c.61del , LRG_537t1:c.61del (AMT) | NP_000472.2:p.Ala21ProfsTer? | |
| NM_001164710.1:c.61del (AMT) | NP_001158182.1:p.Ala21ProfsTer? | |
| NM_001164711.1:c.61del (AMT) | NP_001158183.1:p.Ala21ProfsTer19 | |
| NM_001164712.1:c.61del (AMT) | NP_001158184.1:p.Ala21ProfsTer? | |
| NM_032316.3:c.*2443del (NICN1) MANE Select | NP_115692.1:n.*2443del | |
| NR_028435.1:n.289del (AMT) | ||
| NM_000481.4:c.61del (AMT) MANE Select | NP_000472.2:p.Ala21ProfsTer? | |
| NM_001164710.2:c.61del (AMT) | NP_001158182.1:p.Ala21ProfsTer? | |
| NM_001164711.2:c.61del (AMT) | NP_001158183.1:p.Ala21ProfsTer19 | |
| NM_001164712.2:c.61del (AMT) | NP_001158184.1:p.Ala21ProfsTer? | |
| NR_028435.2:n.84del (AMT) |