UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs769012806
ExAC:
6:167360291 TG / T
gnomAD v2:
6-167360291-TG-T
gnomAD v3:
6-166946803-TG-T
gnomAD v4:
6-166946803-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.166946804del , CM000668.2:g.166946804del | GRCh38 |
| NC_000006.11:g.167360292del , CM000668.1:g.167360292del | GRCh37 |
| NC_000006.10:g.167280282del | NCBI36 |
| NG_016280.1:g.14786del | |
| NG_016280.2:g.14786del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611959.2:c.148-65del | ENSP00000480244.2:n.148-65del | |
| ENST00000620173.5:c.148-3715del | ENSP00000482755.2:n.148-3715del | |
| ENST00000682498.1:n.2257del | ||
| ENST00000682774.1:c.204-65del | ENSP00000507399.1:n.204-65del | |
| ENST00000683158.1:n.365-65del | ||
| ENST00000683770.1:c.87-7796del | ENSP00000507710.1:n.87-7796del | |
| ENST00000683968.1:n.2696-65del | ||
| ENST00000684236.1:c.-73-65del | ENSP00000508128.1:n.-73-65del | |
| ENST00000508775.6:c.204-65del MANE Select | ENSP00000426455.2:n.204-65del | |
| ENST00000028008.9:c.208-65del | ENSP00000028008.5:n.208-65del | |
| ENST00000358165.7:n.244-3715del | ||
| ENST00000366855.10:c.90-65del | ENSP00000424947.1:n.90-65del | |
| ENST00000421787.5:c.204-65del | ENSP00000390833.1:n.204-65del | |
| ENST00000476238.6:c.204-65del | ENSP00000422846.1:n.204-65del | |
| ENST00000478180.6:c.204-65del | ENSP00000426059.1:n.204-65del | |
| ENST00000496851.6:n.104-65del | ||
| ENST00000499370.6:n.1150-65del | ||
| ENST00000507747.1:c.146-65del | ||
| ENST00000508775.5:c.204-65del | ENSP00000426455.1:n.204-65del | |
| ENST00000611959.1:c.204-65del | ENSP00000480244.1:n.204-65del | |
| ENST00000620173.4:c.204-65del | ENSP00000482755.1:n.204-65del | |
| NM_003730.4:c.204-65del | NP_003721.2:n.204-65del | |
| NM_003730.5:c.204-65del | NP_003721.2:n.204-65del | |
| XM_017011397.1:c.90-65del | XP_016866886.1:n.90-65del | |
| XM_017011398.1:c.-73-65del | XP_016866887.1:n.-73-65del | |
| XM_017011399.1:c.204-65del | XP_016866888.1:n.204-65del | |
| XM_024446575.1:c.-73-65del | XP_024302343.1:n.-73-65del | |
| XM_024446576.1:c.-73-65del | XP_024302344.1:n.-73-65del | |
| NM_003730.6:c.204-65del MANE Select | NP_003721.2:n.204-65del |