Linked Data
dbSNP Id:
rs869312038
gnomAD v3:
2-178740588-CTG-C
gnomAD v4:
2-178740588-CTG-C
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178740591_178740592del , CM000664.2:g.178740591_178740592del | GRCh38 |
| NC_000002.11:g.179605318_179605319del , CM000664.1:g.179605318_179605319del | GRCh37 |
| NC_000002.10:g.179313563_179313564del | NCBI36 |
| NG_011618.3:g.95213_95214del , LRG_391:g.95213_95214del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.10361-2230_10361-2229del | ENSP00000343764.6:n.10361-2230_10361-2229... | |
| ENST00000342175.11:c.12130_12131del | ENSP00000340554.6:p.Gln4044ValfsTer16 | |
| ENST00000359218.10:c.11929_11930del | ENSP00000352154.5:p.Gln3977ValfsTer16 | |
| ENST00000342175.10:c.12130_12131del | ENSP00000340554.6:p.Gln4044ValfsTer16 | |
| ENST00000342992.10:c.10361-2230_10361-2229del | ENSP00000343764.6:n.10361-2230_10361-2229... | |
| ENST00000359218.9:c.11929_11930del | ENSP00000352154.5:p.Gln3977ValfsTer16 | |
| ENST00000460472.6:c.11554_11555del | ENSP00000434586.1:p.Gln3852ValfsTer16 | |
| ENST00000589042.5:c.12643_12644del MANE Select | ENSP00000467141.1:p.Gln4215ValfsTer16 | |
| ENST00000591111.5:c.11692_11693del | ENSP00000465570.1:p.Gln3898ValfsTer16 | |
| ENST00000615779.4:c.11692_11693del | ENSP00000483597.1:p.Gln3898ValfsTer16 | |
| NM_001256850.1:c.11692_11693del | NP_001243779.1:p.Gln3898ValfsTer16 | |
| NM_001267550.2:c.12643_12644del MANE Select | NP_001254479.2:p.Gln4215ValfsTer16 | |
| NM_003319.4:c.11554_11555del | NP_003310.4:p.Gln3852ValfsTer16 | |
| NM_133378.4:c.10361-2230_10361-2229del | NP_596869.4:n.10361-2230_10361-2229del | |
| NM_133432.3:c.11929_11930del | NP_597676.3:p.Gln3977ValfsTer16 | |
| NM_133437.4:c.12130_12131del | NP_597681.4:p.Gln4044ValfsTer16 | |
| XM_011511729.1:c.11740_11741del | XP_011510031.1:p.Gln3914ValfsTer16 | |
| XM_011511730.1:c.11740_11741del | XP_011510032.1:p.Gln3914ValfsTer16 | |
| XM_011511731.1:c.11599_11600del | XP_011510033.1:p.Gln3867ValfsTer16 | |
| XM_017004819.1:c.11695_11696del | XP_016860308.1:p.Gln3899ValfsTer16 | |
| XM_017004820.1:c.10364-2230_10364-2229del | XP_016860309.1:n.10364-2230_10364-2229del... | |
| XM_017004821.1:c.10361-2230_10361-2229del | XP_016860310.1:n.10361-2230_10361-2229del... | |
| XM_017004822.1:c.11695_11696del | XP_016860311.1:p.Gln3899ValfsTer16 | |
| XM_017004823.1:c.11695_11696del | XP_016860312.1:p.Gln3899ValfsTer16 | |
| XM_024453094.1:c.11695_11696del | XP_024308862.1:p.Gln3899ValfsTer16 | |
| XM_024453095.1:c.11695_11696del | XP_024308863.1:p.Gln3899ValfsTer16 | |
| XM_024453096.1:c.11695_11696del | XP_024308864.1:p.Gln3899ValfsTer16 | |
| XM_024453097.1:c.11695_11696del | XP_024308865.1:p.Gln3899ValfsTer16 | |
| XM_024453098.1:c.11695_11696del | XP_024308866.1:p.Gln3899ValfsTer16 | |
| XM_024453099.1:c.11695_11696del | XP_024308867.1:p.Gln3899ValfsTer16 |