Linked Data
dbSNP Id:
rs1450789766
gnomAD v2:
16-4812573-CCT-C
gnomAD v3:
16-4762572-CCT-C
gnomAD v4:
16-4762572-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762579_4762580del , CM000678.2:g.4762579_4762580del | GRCh38 |
| NC_000016.9:g.4812580_4812581del , CM000678.1:g.4812580_4812581del | GRCh37 |
| NC_000016.8:g.4752581_4752582del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.597_598del MANE Select | ENSP00000219478.5:p.Gly200ProfsTer? | |
| ENST00000219478.10:c.597_598del | ENSP00000219478.5:p.Gly200ProfsTer? | |
| ENST00000545009.1:c.597_598del | ENSP00000445714.1:p.Gly200ProfsTer? | |
| ENST00000589422.1:c.*125_*126del | ENSP00000466375.1:n.*125_*126del | |
| NM_001303450.1:c.597_598del | NP_001290379.1:p.Gly200ProfsTer? | |
| NM_021646.2:c.597_598del | NP_067678.1:p.Gly200ProfsTer? | |
| XM_005255243.2:c.246_247del | XP_005255300.1:p.Gly83ProfsTer? | |
| XM_011522453.1:c.597_598del | XP_011520755.1:p.Gly200ProfsTer? | |
| XM_011522454.1:c.-28_-27del | XP_011520756.1:n.-28_-27del | |
| NM_021646.3:c.597_598del | NP_067678.1:p.Gly200ProfsTer? | |
| XM_005255243.4:c.246_247del | XP_005255300.1:p.Gly83ProfsTer? | |
| XM_011522453.2:c.597_598del | XP_011520755.1:p.Gly200ProfsTer? | |
| XM_011522454.3:c.-28_-27del | XP_011520756.1:n.-28_-27del | |
| XM_017023121.2:c.-28_-27del | XP_016878610.1:n.-28_-27del | |
| NM_001303450.2:c.597_598del | NP_001290379.1:p.Gly200ProfsTer? | |
| NM_021646.4:c.597_598del MANE Select | NP_067678.1:p.Gly200ProfsTer? |