Linked Data
dbSNP Id:
rs1289969378
gnomAD v2:
1-226924870-ACGCTACTGC-A
gnomAD v3:
1-226737169-ACGCTACTGC-A
gnomAD v4:
1-226737169-ACGCTACTGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226737174_226737182del , CM000663.2:g.226737174_226737182del | GRCh38 |
| NC_000001.10:g.226924875_226924883del , CM000663.1:g.226924875_226924883del | GRCh37 |
| NC_000001.9:g.224991498_224991506del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272117.8:c.281_289del | ENSP00000272117.3:p.Gly94_Ser96del | |
| ENST00000429204.6:c.281_289del MANE Select | ENSP00000411152.1:p.Gly94_Ser96del | |
| ENST00000272117.7:c.281_289del | ENSP00000272117.3:p.Gly94_Ser96del | |
| ENST00000366784.1:c.281_289del | ENSP00000355748.1:p.Gly94_Ser96del | |
| ENST00000429204.5:c.281_289del | ENSP00000411152.1:p.Gly94_Ser96del | |
| NM_002221.3:c.281_289del | NP_002212.3:p.Gly94_Ser96del | |
| XM_005273120.1:c.281_289del | XP_005273177.1:p.Gly94_Ser96del | |
| XM_005273120.3:c.281_289del | XP_005273177.1:p.Gly94_Ser96del | |
| XM_017001211.2:c.281_289del | XP_016856700.1:p.Gly94_Ser96del | |
| NM_001388404.1:c.281_289del | NP_001375333.1:p.Gly94_Ser96del | |
| NM_002221.4:c.281_289del MANE Select | NP_002212.3:p.Gly94_Ser96del |