Linked Data
ClinVar Variation Id:
8550
dbSNP Id:
rs764070148
ExAC:
6:32052343 CTT / C
gnomAD v2:
6-32052343-CTT-C
gnomAD v3:
6-32084566-CTT-C
gnomAD v4:
6-32084566-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32084568_32084569del , CM000668.2:g.32084568_32084569del | GRCh38 |
| NC_000006.11:g.32052345_32052346del , CM000668.1:g.32052345_32052346del | GRCh37 |
| NC_000006.10:g.32160323_32160324del | NCBI36 |
| NG_008337.2:g.29807_29808del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644971.2:c.3290_3291del MANE Select | ENSP00000496448.1:p.Lys1097ArgfsTer? | |
| ENST00000647633.1:c.4031_4032del | ENSP00000497649.1:p.Lys1344ArgfsTer? | |
| ENST00000375244.7:c.3290_3291del | ENSP00000364393.3:p.Lys1097ArgfsTer? | |
| ENST00000613214.4:c.3551_3552del | ENSP00000480067.1:p.Lys1184ArgfsTer? | |
| NM_019105.6:c.3290_3291del | NP_061978.6:p.Lys1097ArgfsTer? | |
| NM_001365276.1:c.3290_3291del | NP_001352205.1:p.Lys1097ArgfsTer? | |
| NM_019105.7:c.3290_3291del | NP_061978.6:p.Lys1097ArgfsTer? | |
| NM_001365276.2:c.3290_3291del MANE Select | NP_001352205.1:p.Lys1097ArgfsTer? | |
| NM_019105.8:c.3290_3291del | NP_061978.6:p.Lys1097ArgfsTer? |