Linked Data
ClinVar Variation Id:
1026109
dbSNP Id:
rs544842497
gnomAD v2:
12-121435341-CCTGCAGCCCGTCCAGTTCTCCCAGCCG-C
gnomAD v3:
12-120997538-CCTGCAGCCCGTCCAGTTCTCCCAGCCG-C
gnomAD v4:
12-120997538-CCTGCAGCCCGTCCAGTTCTCCCAGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997544_120997570del , CM000674.2:g.120997544_120997570del | GRCh38 |
| NC_000012.11:g.121435347_121435373del , CM000674.1:g.121435347_121435373del | GRCh37 |
| NC_000012.10:g.119919730_119919756del | NCBI36 |
| NG_011731.2:g.23799_23825del , LRG_522:g.23799_23825del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*127_*153del | ENSP00000453965.2:n.*127_*153del | |
| ENST00000257555.11:c.1380_1406del MANE Select | ENSP00000257555.5:p.Gln460_Leu468del | |
| ENST00000257555.10:c.1380_1406del | ENSP00000257555.4:p.Gln460_Leu468del | |
| ENST00000400024.6:c.1380_1406del | ENSP00000476181.1:p.Gln460_Leu468del | |
| ENST00000402929.5:n.2246_2272del | ||
| ENST00000535955.5:n.96_122del | ||
| ENST00000538626.2:n.244_270del | ||
| ENST00000538646.5:c.*356_*382del | ENSP00000443964.1:n.*356_*382del | |
| ENST00000540108.1:c.*820_*846del | ENSP00000445445.1:n.*820_*846del | |
| ENST00000541395.5:c.1380_1406del | ENSP00000443112.1:p.Gln460_Leu468del | |
| ENST00000541924.5:c.*394_*420del | ENSP00000440361.1:n.*394_*420del | |
| ENST00000543255.1:n.424_450del | ||
| ENST00000543427.5:c.843_869del | ENSP00000439721.2:p.Gln281_Leu289del | |
| ENST00000544413.2:c.1380_1406del | ENSP00000438804.1:p.Gln460_Leu468del | |
| ENST00000544574.5:c.*143_*169del | ENSP00000438565.1:n.*143_*169del | |
| ENST00000560968.5:c.1197_1223del | ||
| ENST00000615446.4:c.168_194del | ENSP00000483994.1:p.Gln56_Leu64del | |
| ENST00000617366.4:c.587-90_587-64del | ENSP00000481967.1:n.587-90_587-64del | |
| NM_000545.5:c.1380_1406del , LRG_522t1:c.1380_1406del | NP_000536.5:p.Gln460_Leu468del | |
| NM_000545.6:c.1380_1406del | NP_000536.5:p.Gln460_Leu468del | |
| NM_001306179.1:c.1380_1406del | NP_001293108.1:p.Gln460_Leu468del | |
| XM_005253931.2:c.1380_1406del | XP_005253988.1:p.Gln460_Leu468del | |
| XM_024449168.1:c.1380_1406del | XP_024304936.1:p.Gln460_Leu468del | |
| NM_000545.8:c.1380_1406del MANE Select | NP_000536.6:p.Gln460_Leu468del | |
| NM_001306179.2:c.1380_1406del | NP_001293108.2:p.Gln460_Leu468del |