Linked Data
ClinVar Variation Id:
166649
dbSNP Id:
rs727503795
ExAC:
11:108009632 TGG / T
gnomAD v2:
11-108009632-TGG-T
gnomAD v3:
11-108138905-TGG-T
gnomAD v4:
11-108138905-TGG-T
MyVariant Identifiers:
chr11:g.108009633_108009634del (hg19)
chr11:g.108009633_108009634delGG (hg19)
chr11:g.108138906_108138907del (hg38)
PubMed:
PMID:24517888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108138906_108138907del , CM000673.2:g.108138906_108138907del | GRCh38 |
| NC_000011.9:g.108009633_108009634del , CM000673.1:g.108009633_108009634del | GRCh37 |
| NC_000011.8:g.107514843_107514844del | NCBI36 |
| NG_009888.1:g.22376_22377del | |
| NG_009888.2:g.27202_27203del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265838.9:c.444_445del MANE Select | ENSP00000265838.4:p.Met148IlefsTer28 | |
| ENST00000671707.1:n.539_540del | ||
| ENST00000672008.1:c.*2_*3del | ENSP00000500499.1:n.*2_*3del | |
| ENST00000672031.1:c.444_445del | ENSP00000500463.1:p.Met148IlefsTer28 | |
| ENST00000672284.1:c.174_175del | ENSP00000500444.1:p.Met58IlefsTer28 | |
| ENST00000672354.1:c.444_445del | ENSP00000500490.1:p.Met148IlefsTer28 | |
| ENST00000672367.1:c.81_82del | ENSP00000500209.1:p.Met27IlefsTer28 | |
| ENST00000672580.1:c.444_445del | ENSP00000500366.1:p.Met148IlefsTer28 | |
| ENST00000672907.1:c.129_130del | ENSP00000500928.1:p.Met43IlefsTer28 | |
| ENST00000673000.1:n.532_533del | ||
| ENST00000673531.1:c.174_175del | ENSP00000500163.1:p.Met58IlefsTer28 | |
| ENST00000265838.8:c.444_445del | ENSP00000265838.4:p.Met148IlefsTer28 | |
| ENST00000528370.1:c.250_251del | ||
| ENST00000531813.5:c.343_344del | ENSP00000435965.1:p.Gly115TrpfsTer14 | |
| ENST00000534773.1:n.187_188del | ||
| NM_000019.3:c.444_445del | NP_000010.1:p.Met148IlefsTer28 | |
| XM_006718834.2:c.174_175del | XP_006718897.1:p.Met58IlefsTer28 | |
| XM_006718835.2:c.174_175del | XP_006718898.1:p.Met58IlefsTer28 | |
| XM_006718835.3:c.174_175del | XP_006718898.1:p.Met58IlefsTer28 | |
| XM_017017681.1:c.174_175del | XP_016873170.1:p.Met58IlefsTer28 | |
| XM_017017682.2:c.66_67del | XP_016873171.1:p.Met22IlefsTer28 | |
| XM_017017683.2:c.66_67del | XP_016873172.1:p.Met22IlefsTer28 | |
| XM_024448511.1:c.174_175del | XP_024304279.1:p.Met58IlefsTer28 | |
| XM_024448512.1:c.174_175del | XP_024304280.1:p.Met58IlefsTer28 | |
| XM_024448513.1:c.174_175del | XP_024304281.1:p.Met58IlefsTer28 | |
| XM_024448514.1:c.174_175del | XP_024304282.1:p.Met58IlefsTer28 | |
| XM_024448515.1:c.174_175del | XP_024304283.1:p.Met58IlefsTer28 | |
| NM_000019.4:c.444_445del MANE Select | NP_000010.1:p.Met148IlefsTer28 | |
| NM_001386677.1:c.444_445del | NP_001373606.1:p.Met148IlefsTer28 | |
| NM_001386678.1:c.129_130del | NP_001373607.1:p.Met43IlefsTer28 | |
| NM_001386679.1:c.147_148del | NP_001373608.1:p.Met49IlefsTer28 | |
| NM_001386681.1:c.174_175del | NP_001373610.1:p.Met58IlefsTer28 | |
| NM_001386682.1:c.174_175del | NP_001373611.1:p.Met58IlefsTer28 | |
| NM_001386685.1:c.174_175del | NP_001373614.1:p.Met58IlefsTer28 | |
| NM_001386686.1:c.174_175del | NP_001373615.1:p.Met58IlefsTer28 | |
| NM_001386687.1:c.174_175del | NP_001373616.1:p.Met58IlefsTer28 | |
| NM_001386688.1:c.174_175del | NP_001373617.1:p.Met58IlefsTer28 | |
| NM_001386689.1:c.174_175del | NP_001373618.1:p.Met58IlefsTer28 | |
| NM_001386690.1:c.174_175del | NP_001373619.1:p.Met58IlefsTer28 | |
| NM_001386691.1:c.174_175del | NP_001373620.1:p.Met58IlefsTer28 | |
| NR_170162.1:n.484_485del | ||
| NR_170163.1:n.477_478del |