Linked Data
ClinVar Variation Id:
181102
dbSNP Id:
rs730880674
ExAC:
11:47354445 AAGT / A
gnomAD v2:
11-47354445-AAGT-A
gnomAD v3:
11-47332894-AAGT-A
gnomAD v4:
11-47332894-AAGT-A
PubMed:
PMID:23508784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332900_47332902del , CM000673.2:g.47332900_47332902del | GRCh38 |
| NC_000011.9:g.47354451_47354453del , CM000673.1:g.47354451_47354453del | GRCh37 |
| NC_000011.8:g.47311027_47311029del | NCBI36 |
| NG_007667.1:g.24806_24808del , LRG_386:g.24806_24808del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.3407_3409del MANE Select | ENSP00000442795.1:p.Tyr1136del | |
| ENST00000256993.8:c.3407_3409del | ENSP00000256993.5:p.Tyr1136del | |
| ENST00000399249.6:c.3407_3409del | ENSP00000382193.2:p.Tyr1136del | |
| ENST00000545968.5:c.3407_3409del | ENSP00000442795.1:p.Tyr1136del | |
| NM_000256.3:c.3407_3409del , LRG_386t1:c.3407_3409del MANE Select | NP_000247.2:p.Tyr1136del | |
| XM_011520117.1:c.3389_3391del | XP_011518419.1:p.Tyr1130del | |
| XM_011520118.1:c.3326_3328del | XP_011518420.1:p.Tyr1109del |