Linked Data
ClinVar Variation Id:
966
dbSNP Id:
rs386834252
ExAC:
6:80198880 TG / T
gnomAD v2:
6-80198880-TG-T
gnomAD v4:
6-79489163-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79489166del , CM000668.2:g.79489166del | GRCh38 |
| NC_000006.11:g.80198883del , CM000668.1:g.80198883del | GRCh37 |
| NC_000006.10:g.80255602del | NCBI36 |
| NG_016011.1:g.53267del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369846.9:c.1151del MANE Select | ENSP00000358861.4:p.Pro384GlnfsTer18 | |
| ENST00000369846.8:c.1151del | ENSP00000358861.4:p.Pro384GlnfsTer18 | |
| ENST00000392959.5:c.1151del | ENSP00000376686.1:p.Pro384GlnfsTer18 | |
| ENST00000467898.3:c.1151del | ENSP00000474463.1:p.Pro384GlnfsTer18 | |
| NM_001122769.2:c.1151del | NP_001116241.1:p.Pro384GlnfsTer18 | |
| NM_181714.3:c.1151del | NP_859065.2:p.Pro384GlnfsTer18 | |
| XM_005248665.3:c.1151del | XP_005248722.1:p.Pro384GlnfsTer18 | |
| XM_011535504.1:c.1151del | XP_011533806.1:p.Pro384GlnfsTer18 | |
| XM_005248665.4:c.1151del | XP_005248722.1:p.Pro384GlnfsTer18 | |
| XR_001744213.1:n.2902del | ||
| XR_001744214.1:n.2864del | ||
| NM_001122769.3:c.1151del MANE Select | NP_001116241.1:p.Pro384GlnfsTer18 | |
| NM_181714.4:c.1151del | NP_859065.2:p.Pro384GlnfsTer18 |