Linked Data
ClinVar Variation Id:
1940209
ClinVar RCV Id:
RCV002658280
dbSNP Id:
rs1564877269
gnomAD v2:
11-9163519-GC-G
gnomAD v4:
11-9141972-GC-G
MyVariant Identifiers:
chr11:g.9163520del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9141974del , CM000673.2:g.9141974del | GRCh38 |
| NC_000011.9:g.9163521del , CM000673.1:g.9163521del | GRCh37 |
| NC_000011.8:g.9120097del | NCBI36 |
| NG_053019.1:g.128363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3647del MANE Select | ENSP00000328524.3:p.Gly1216AlafsTer? | |
| ENST00000525784.6:n.1509del | ||
| ENST00000530780.2:c.*3473del | ENSP00000433925.1:n.*3473del | |
| ENST00000531747.2:n.3318del | ||
| ENST00000679446.1:n.3568del | ||
| ENST00000679458.1:n.5048del | ||
| ENST00000679460.1:n.4709del | ||
| ENST00000679568.1:c.3647del | ENSP00000505860.1:p.Gly1216AlafsTer15 | |
| ENST00000679745.1:n.4152del | ||
| ENST00000679773.1:n.2808del | ||
| ENST00000679926.1:n.4949del | ||
| ENST00000679999.1:c.*704del | ENSP00000505198.1:n.*704del | |
| ENST00000680252.1:c.3314del | ||
| ENST00000680294.1:c.3440del | ENSP00000506113.1:p.Gly1147AlafsTer? | |
| ENST00000680358.1:n.2946del | ||
| ENST00000680470.1:c.*1428del | ENSP00000505975.1:n.*1428del | |
| ENST00000680554.1:c.*180del | ENSP00000505621.1:n.*180del | |
| ENST00000680576.1:n.5123del | ||
| ENST00000680599.1:n.3688del | ||
| ENST00000680742.1:c.*179+1del | ||
| ENST00000680791.1:n.2531del | ||
| ENST00000680885.1:n.5349del | ||
| ENST00000681158.1:c.3231del | ||
| ENST00000681203.1:c.3575del | ENSP00000506456.1:p.Gly1192AlafsTer? | |
| ENST00000681371.1:n.3519del | ||
| ENST00000681425.1:n.4125del | ||
| ENST00000681639.1:n.1926del | ||
| ENST00000328194.7:c.3647del | ENSP00000328524.3:p.Gly1216AlafsTer? | |
| ENST00000525784.5:c.583del | ||
| ENST00000527700.5:n.3209del | ||
| ENST00000528725.5:c.343del | ||
| ENST00000529977.5:n.1548del | ||
| ENST00000530044.5:c.3646+1del | ||
| ENST00000531747.1:c.883del | ||
| ENST00000533737.5:c.310del | ||
| NM_001243254.1:c.3646+1del | ||
| NM_015213.3:c.3647del | NP_056028.2:p.Gly1216AlafsTer? | |
| XM_005252832.1:c.3647del | XP_005252889.1:p.Gly1216AlafsTer15 | |
| XM_011519952.1:c.3646+1del | ||
| XM_011519953.1:c.1745del | XP_011518255.1:p.Gly582AlafsTer15 | |
| XR_242782.2:n.3829del | ||
| XR_930851.1:n.3828+1del | ||
| NM_001348749.1:c.3575del | NP_001335678.1:p.Gly1192AlafsTer? | |
| NM_001348750.1:c.3359del | NP_001335679.1:p.Gly1120AlafsTer? | |
| NR_145966.2:n.3821del | ||
| NM_015213.4:c.3647del MANE Select | NP_056028.2:p.Gly1216AlafsTer? | |
| NM_001243254.2:c.3646+1del | ||
| NM_001348749.2:c.3575del | NP_001335678.1:p.Gly1192AlafsTer? | |
| NM_001348750.2:c.3359del | NP_001335679.1:p.Gly1120AlafsTer? |