Linked Data
gnomAD v2:
6-31368528-CGCCT-C
gnomAD v3:
6-31400751-CGCCT-C
gnomAD v4:
6-31400751-CGCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31400752_31400755del , CM000668.2:g.31400752_31400755del | GRCh38 |
| NC_000006.11:g.31368529_31368532del , CM000668.1:g.31368529_31368532del | GRCh37 |
| NC_000006.10:g.31476508_31476511del | NCBI36 |
| NG_034139.1:g.5969_5972del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000667609.1:n.53_56del | ||
| ENST00000673647.1:c.-400_-397del | ENSP00000500967.1:n.-400_-397del | |
| ENST00000673996.1:n.48_51del | ||
| ENST00000674069.1:c.-184_-181del | ENSP00000501157.1:n.-184_-181del | |
| ENST00000674131.1:c.-420_-417del | ENSP00000501002.1:n.-420_-417del | |
| ENST00000616296.4:c.-253_-250del | ENSP00000482382.1:n.-253_-250del | |
| NM_001289152.1:c.-253_-250del | NP_001276081.1:n.-253_-250del | |
| NM_001289153.1:c.-233_-230del | NP_001276082.1:n.-233_-230del | |
| NM_001289154.1:c.-184_-181del | NP_001276083.1:n.-184_-181del | |
| NM_001289152.2:c.-253_-250del | NP_001276081.1:n.-253_-250del | |
| NM_001289153.2:c.-233_-230del | NP_001276082.1:n.-233_-230del | |
| NM_001289154.2:c.-184_-181del | NP_001276083.1:n.-184_-181del |