Linked Data
dbSNP Id:
rs1778298515
gnomAD v3:
6-139373437-AGCCGCCGGG-A
gnomAD v4:
6-139373437-AGCCGCCGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373439_139373447del , CM000668.2:g.139373439_139373447del | GRCh38 |
| NC_000006.11:g.139694576_139694584del , CM000668.1:g.139694576_139694584del | GRCh37 |
| NC_000006.10:g.139736269_139736277del | NCBI36 |
| NG_016169.1:g.6203_6211del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.499_507del MANE Select | ENSP00000356623.2:p.Pro167_Gly169del | |
| ENST00000367651.3:c.499_507del | ENSP00000356623.2:p.Pro167_Gly169del | |
| ENST00000536159.2:c.499_507del | ENSP00000442831.1:p.Pro167_Gly169del | |
| ENST00000537332.2:c.514_522del | ENSP00000444198.2:p.Pro172_Gly174del | |
| ENST00000618718.1:c.476+23_476+31del | ENSP00000479918.1:n.476+23_476+31del | |
| NM_001168388.2:c.499_507del | NP_001161860.1:p.Pro167_Gly169del | |
| NM_001168389.2:c.514_522del | NP_001161861.2:p.Pro172_Gly174del | |
| NM_006079.4:c.499_507del | NP_006070.2:p.Pro167_Gly169del | |
| NM_006079.5:c.499_507del MANE Select | NP_006070.2:p.Pro167_Gly169del | |
| NM_001168388.3:c.499_507del | NP_001161860.1:p.Pro167_Gly169del | |
| NM_001168389.3:c.514_522del | NP_001161861.2:p.Pro172_Gly174del |