Linked Data
dbSNP Id:
rs753356162
ExAC:
7:138391377 CG / C
gnomAD v2:
7-138391377-CG-C
gnomAD v4:
7-138706632-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138706634del , CM000669.2:g.138706634del | GRCh38 |
| NC_000007.13:g.138391379del , CM000669.1:g.138391379del | GRCh37 |
| NC_000007.12:g.138041919del | NCBI36 |
| NG_008145.1:g.96564del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310018.7:c.2514del MANE Select | ENSP00000308122.2:p.Glu839ArgfsTer24 | |
| ENST00000478480.2:c.*79del | ENSP00000495261.1:n.*79del | |
| ENST00000644341.1:c.1740del | ENSP00000495642.1:p.Glu581ArgfsTer24 | |
| ENST00000645515.1:c.2514del | ENSP00000496421.1:p.Glu839ArgfsTer24 | |
| ENST00000647427.1:c.1289del | ENSP00000496259.1:n.1289del | |
| ENST00000310018.6:c.2514del | ENSP00000308122.2:p.Glu839ArgfsTer24 | |
| ENST00000353492.4:c.2514del | ENSP00000253856.6:p.Glu839ArgfsTer24 | |
| ENST00000393054.5:c.2514del | ENSP00000376774.1:p.Glu839ArgfsTer24 | |
| NM_020632.2:c.2514del | NP_065683.2:p.Glu839ArgfsTer24 | |
| NM_130840.2:c.2514del | NP_570855.2:p.Glu839ArgfsTer24 | |
| NM_130841.2:c.2514del | NP_570856.2:p.Glu839ArgfsTer24 | |
| XM_005250393.1:c.2514del | XP_005250450.1:p.Glu839ArgfsTer24 | |
| XM_005250394.2:c.2514del | XP_005250451.1:p.Glu839ArgfsTer24 | |
| XM_005250394.3:c.2514del | XP_005250451.1:p.Glu839ArgfsTer24 | |
| NM_020632.3:c.2514del MANE Select | NP_065683.2:p.Glu839ArgfsTer24 | |
| NM_130840.3:c.2514del | NP_570855.2:p.Glu839ArgfsTer24 | |
| NM_130841.3:c.2514del | NP_570856.2:p.Glu839ArgfsTer24 |