Linked Data
dbSNP Id:
rs1233484802
gnomAD v3:
6-139373398-AGCTGCTGCCAGAGCCGCCGGGGGTGCT-A
gnomAD v4:
6-139373398-AGCTGCTGCCAGAGCCGCCGGGGGTGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373404_139373430del , CM000668.2:g.139373404_139373430del | GRCh38 |
| NC_000006.11:g.139694541_139694567del , CM000668.1:g.139694541_139694567del | GRCh37 |
| NC_000006.10:g.139736234_139736260del | NCBI36 |
| NG_016169.1:g.6224_6250del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.520_546del MANE Select | ENSP00000356623.2:p.Ser174_Ser182del | |
| ENST00000367651.3:c.520_546del | ENSP00000356623.2:p.Ser174_Ser182del | |
| ENST00000536159.2:c.520_546del | ENSP00000442831.1:p.Ser174_Ser182del | |
| ENST00000537332.2:c.535_561del | ENSP00000444198.2:p.Ser179_Ser187del | |
| ENST00000618718.1:c.476+44_476+70del | ENSP00000479918.1:n.476+44_476+70del | |
| NM_001168388.2:c.520_546del | NP_001161860.1:p.Ser174_Ser182del | |
| NM_001168389.2:c.535_561del | NP_001161861.2:p.Ser179_Ser187del | |
| NM_006079.4:c.520_546del | NP_006070.2:p.Ser174_Ser182del | |
| NM_006079.5:c.520_546del MANE Select | NP_006070.2:p.Ser174_Ser182del | |
| NM_001168388.3:c.520_546del | NP_001161860.1:p.Ser174_Ser182del | |
| NM_001168389.3:c.535_561del | NP_001161861.2:p.Ser179_Ser187del |