Linked Data
dbSNP Id:
rs782276616
ExAC:
12:6979590 AAGC / A
gnomAD v2:
12-6979590-AAGC-A
gnomAD v3:
12-6870426-AAGC-A
gnomAD v4:
12-6870426-AAGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870430_6870432del , CM000674.2:g.6870430_6870432del | GRCh38 |
| NC_000012.11:g.6979594_6979596del , CM000674.1:g.6979594_6979596del | GRCh37 |
| NC_000012.10:g.6849855_6849857del | NCBI36 |
| NG_011948.1:g.8011_8013del | |
| NG_013308.1:g.7929_7931del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.*47_*49del MANE Select | ENSP00000379933.4:n.*47_*49del | |
| ENST00000229270.8:c.*47_*49del | ENSP00000229270.4:n.*47_*49del | |
| ENST00000396705.9:c.*47_*49del | ENSP00000379933.4:n.*47_*49del | |
| ENST00000474253.1:n.286_288del | ||
| ENST00000535434.5:c.*47_*49del | ENSP00000443599.1:n.*47_*49del | |
| ENST00000613953.4:c.*47_*49del | ENSP00000484435.1:n.*47_*49del | |
| NM_000365.5:c.*47_*49del | NP_000356.1:n.*47_*49del | |
| NM_001159287.1:c.*47_*49del | NP_001152759.1:n.*47_*49del | |
| NM_001258026.1:c.*47_*49del | NP_001244955.1:n.*47_*49del | |
| XR_002957378.1:n.1805_1807del | ||
| NM_000365.6:c.*47_*49del MANE Select | NP_000356.1:n.*47_*49del | |
| NM_001258026.2:c.*47_*49del | NP_001244955.1:n.*47_*49del |