Linked Data
ClinVar Variation Id:
420368
dbSNP Id:
rs1064794437
gnomAD v4:
11-108268501-T-TAG
MyVariant Identifiers:
chr11:g.108139228_108139229insAG (hg19)
chr11:g.108268501_108268502insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108268501_108268502insAG , CM000673.2:g.108268501_108268502insAG | GRCh38 |
| NC_000011.9:g.108139228_108139229insAG , CM000673.1:g.108139228_108139229insAG | GRCh37 |
| NC_000011.8:g.107644438_107644439insAG | NCBI36 |
| NG_009830.1:g.50670_50671insAG , LRG_135:g.50670_50671insAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.2730_2731insAG | ENSP00000388058.2:p.Ala911ArgfsTer19 | |
| ENST00000713593.1:c.*2201_*2202insAG | ENSP00000518889.1:n.*2201_*2202insAG | |
| ENST00000278616.9:c.2730_2731insAG | ENSP00000278616.4:p.Ala911ArgfsTer19 | |
| ENST00000682516.1:n.2772+1159_2772+1160insAG | ||
| ENST00000683174.1:n.2880_2881insAG | ||
| ENST00000684037.1:c.*1573+1159_*1573+1160insAG | ENSP00000508245.1:n.*1573+1159_*1573+1160... | |
| ENST00000527805.6:c.2730_2731insAG | ENSP00000435747.2:p.Ala911ArgfsTer19 | |
| ENST00000675595.1:c.2565_2566insAG | ENSP00000502563.1:p.Ala856ArgfsTer19 | |
| ENST00000675843.1:c.2730_2731insAG MANE Select | ENSP00000501606.1:p.Ala911ArgfsTer19 | |
| ENST00000278616.8:c.2730_2731insAG | ENSP00000278616.4:p.Ala911ArgfsTer19 | |
| ENST00000419286.2:n.92_93insAG | ||
| ENST00000452508.6:c.2730_2731insAG | ENSP00000388058.2:p.Ala911ArgfsTer19 | |
| ENST00000527805.5:c.2730_2731insAG | ENSP00000435747.1:p.Ala911ArgfsTer19 | |
| NM_000051.3:c.2730_2731insAG , LRG_135t1:c.2730_2731insAG | NP_000042.3:p.Ala911ArgfsTer19 | |
| XM_005271561.3:c.2730_2731insAG | XP_005271618.2:p.Ala911ArgfsTer19 | |
| XM_005271562.3:c.2730_2731insAG | XP_005271619.2:p.Ala911ArgfsTer19 | |
| XM_006718843.2:c.2730_2731insAG | XP_006718906.1:p.Ala911ArgfsTer19 | |
| XM_011542840.1:c.2730_2731insAG | XP_011541142.1:p.Ala911ArgfsTer19 | |
| XM_011542841.1:c.2730_2731insAG | XP_011541143.1:p.Ala911ArgfsTer19 | |
| XM_011542842.1:c.2565_2566insAG | XP_011541144.1:p.Ala856ArgfsTer19 | |
| XM_011542843.1:c.2730_2731insAG | XP_011541145.1:p.Ala911ArgfsTer19 | |
| XM_011542844.1:c.1686_1687insAG | XP_011541146.1:p.Ala563ArgfsTer19 | |
| XM_011542845.1:c.1422_1423insAG | XP_011541147.1:p.Ala475ArgfsTer19 | |
| XM_011542846.1:c.2730_2731insAG | XP_011541148.1:p.Ala911ArgfsTer19 | |
| NM_001351834.1:c.2730_2731insAG | NP_001338763.1:p.Ala911ArgfsTer19 | |
| XM_005271562.5:c.2730_2731insAG | XP_005271619.2:p.Ala911ArgfsTer19 | |
| XM_006718843.4:c.2730_2731insAG | XP_006718906.1:p.Ala911ArgfsTer19 | |
| XM_011542840.3:c.2730_2731insAG | XP_011541142.1:p.Ala911ArgfsTer19 | |
| XM_011542842.3:c.2565_2566insAG | XP_011541144.1:p.Ala856ArgfsTer19 | |
| XM_011542843.2:c.2730_2731insAG | XP_011541145.1:p.Ala911ArgfsTer19 | |
| XM_011542844.3:c.1686_1687insAG | XP_011541146.1:p.Ala563ArgfsTer19 | |
| XM_011542845.2:c.1422_1423insAG | XP_011541147.1:p.Ala475ArgfsTer19 | |
| XM_017017789.2:c.2730_2731insAG | XP_016873278.1:p.Ala911ArgfsTer19 | |
| XM_017017790.2:c.2730_2731insAG | XP_016873279.1:p.Ala911ArgfsTer19 | |
| XM_017017791.1:c.2730_2731insAG | XP_016873280.1:p.Ala911ArgfsTer19 | |
| XM_017017792.2:c.2730_2731insAG | XP_016873281.1:p.Ala911ArgfsTer19 | |
| XR_002957150.1:n.3463_3464insAG | ||
| NM_001351834.2:c.2730_2731insAG | NP_001338763.1:p.Ala911ArgfsTer19 | |
| NM_000051.4:c.2730_2731insAG MANE Select | NP_000042.3:p.Ala911ArgfsTer19 |