Linked Data
ClinVar Variation Id:
591880
ClinVar RCV Id:
RCV000723062
dbSNP Id:
rs758540698
gnomAD v2:
5-68830639-ATCCAGAGTCT-A
gnomAD v3:
5-69534812-ATCCAGAGTCT-A
gnomAD v4:
5-69534812-ATCCAGAGTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69534816_69534825del , CM000667.2:g.69534816_69534825del | GRCh38 |
| NC_000005.9:g.68830643_68830652del , CM000667.1:g.68830643_68830652del | GRCh37 |
| NC_000005.8:g.68866399_68866408del | NCBI36 |
| NG_028291.1:g.47525_47534del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396442.7:c.1014_1023del MANE Select | ENSP00000379719.2:p.Glu339IlefsTer15 | |
| ENST00000680027.1:c.1014_1023del | ENSP00000506162.1:p.Glu339IlefsTer15 | |
| ENST00000680496.1:c.852_861del | ENSP00000504966.1:p.Glu285IlefsTer15 | |
| ENST00000680784.1:c.852_861del | ENSP00000506305.1:p.Glu285IlefsTer15 | |
| ENST00000681041.1:c.1014_1023del | ENSP00000505426.1:p.Glu339IlefsTer15 | |
| ENST00000681586.1:c.1014_1023del | ENSP00000505541.1:p.Glu339IlefsTer15 | |
| ENST00000681588.1:c.*190_*199del | ENSP00000506017.1:n.*190_*199del | |
| ENST00000681895.1:c.1014_1023del | ENSP00000505831.1:p.Glu339IlefsTer12 | |
| ENST00000355237.6:c.1014_1023del | ENSP00000347379.2:p.Glu339IlefsTer15 | |
| ENST00000396442.6:c.1014_1023del | ENSP00000379719.2:p.Glu339IlefsTer15 | |
| ENST00000538151.2:c.261_270del | ENSP00000445940.1:p.Glu88IlefsTer15 | |
| NM_001205254.1:c.1014_1023del | NP_001192183.1:p.Glu339IlefsTer15 | |
| NM_001205255.1:c.261_270del | NP_001192184.1:p.Glu88IlefsTer15 | |
| NM_002538.3:c.1014_1023del | NP_002529.1:p.Glu339IlefsTer15 | |
| XM_017008913.2:c.852_861del | XP_016864402.1:p.Glu285IlefsTer15 | |
| XM_017008914.2:c.852_861del | XP_016864403.1:p.Glu285IlefsTer15 | |
| NM_001205254.2:c.1014_1023del MANE Select | NP_001192183.1:p.Glu339IlefsTer15 | |
| NM_002538.4:c.1014_1023del | NP_002529.1:p.Glu339IlefsTer15 |