Linked Data
ClinVar Variation Id:
1314508
ClinVar RCV Id:
RCV001773017
dbSNP Id:
rs750077647
gnomAD v2:
4-88929173-CGAGGAG-C
gnomAD v3:
4-88008021-CGAGGAG-C
gnomAD v4:
4-88008021-CGAGGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008035_88008040del , CM000666.2:g.88008035_88008040del | GRCh38 |
| NC_000004.11:g.88929187_88929192del , CM000666.1:g.88929187_88929192del | GRCh37 |
| NC_000004.10:g.89148211_89148216del | NCBI36 |
| NG_008604.1:g.5368_5373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.302_307del MANE Select | ENSP00000237596.2:p.Glu101_Glu102del | |
| ENST00000237596.6:c.302_307del | ENSP00000237596.2:p.Glu101_Glu102del | |
| NM_000297.3:c.302_307del | NP_000288.1:p.Glu101_Glu102del | |
| XM_011532028.1:c.302_307del | XP_011530330.1:p.Glu101_Glu102del | |
| XR_244632.2:n.397_402del | ||
| NR_156488.1:n.389_394del | ||
| XM_011532028.2:c.302_307del | XP_011530330.1:p.Glu101_Glu102del | |
| NM_000297.4:c.302_307del MANE Select | NP_000288.1:p.Glu101_Glu102del | |
| NR_156488.2:n.401_406del |