Linked Data
dbSNP Id:
rs200562977
gnomAD v2:
11-2781507-AGGCGGGCAGGCG-A
gnomAD v3:
11-2760277-AGGCGGGCAGGCG-A
gnomAD v4:
11-2760277-AGGCGGGCAGGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2760282_2760293del , CM000673.2:g.2760282_2760293del | GRCh38 |
| NC_000011.9:g.2781512_2781523del , CM000673.1:g.2781512_2781523del | GRCh37 |
| NC_000011.8:g.2738088_2738099del | NCBI36 |
| NG_008935.1:g.320292_320303del , LRG_287:g.320292_320303del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1158-8562_1158-8551del | ENSP00000434560.2:n.1158-8562_1158-8551de... | |
| ENST00000646564.2:c.975-8562_975-8551del | ENSP00000495806.2:n.975-8562_975-8551del | |
| ENST00000155840.12:c.1515-8562_1515-8551del MANE Select | ENSP00000155840.2:n.1515-8562_1515-8551de... | |
| ENST00000335475.6:c.1134-8562_1134-8551del | ENSP00000334497.5:n.1134-8562_1134-8551de... | |
| ENST00000646564.1:c.621-8562_621-8551del | ENSP00000495806.1:n.621-8562_621-8551del | |
| ENST00000155840.9:c.1515-8562_1515-8551del | ENSP00000155840.2:n.1515-8562_1515-8551de... | |
| ENST00000335475.5:c.1134-8562_1134-8551del | ENSP00000334497.5:n.1134-8562_1134-8551de... | |
| NM_000218.2:c.1515-8562_1515-8551del , LRG_287t1:c.1515-8562_1515-8551del | NP_000209.2:n.1515-8562_1515-8551del | |
| NM_181798.1:c.1134-8562_1134-8551del , LRG_287t2:c.1134-8562_1134-8551del | NP_861463.1:n.1134-8562_1134-8551del | |
| NM_000218.3:c.1515-8562_1515-8551del MANE Select | NP_000209.2:n.1515-8562_1515-8551del |