Linked Data
dbSNP Id:
rs370330889
gnomAD v2:
6-24178476-CTTGA-C
gnomAD v3:
6-24178248-CTTGA-C
gnomAD v4:
6-24178248-CTTGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178251_24178254del , CM000668.2:g.24178251_24178254del | GRCh38 |
| NC_000006.11:g.24178479_24178482del , CM000668.1:g.24178479_24178482del | GRCh37 |
| NC_000006.10:g.24286458_24286461del | NCBI36 |
| NG_012829.1:g.184801_184804del | |
| NG_012829.2:g.210041_210044del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.1326+78_1326+81del MANE Select | ENSP00000367715.3:n.1326+78_1326+81del | |
| ENST00000378450.6:c.585+78_585+81del | ENSP00000367711.3:n.585+78_585+81del | |
| ENST00000378454.7:c.1326+78_1326+81del | ENSP00000367715.3:n.1326+78_1326+81del | |
| NM_001195610.1:c.1326+78_1326+81del | NP_001182539.1:n.1326+78_1326+81del | |
| NM_016356.4:c.1326+78_1326+81del | NP_057440.2:n.1326+78_1326+81del | |
| NM_016356.5:c.1326+78_1326+81del MANE Select | NP_057440.2:n.1326+78_1326+81del | |
| NM_001195610.2:c.1326+78_1326+81del | NP_001182539.1:n.1326+78_1326+81del |