Linked Data
dbSNP Id:
rs1282293330
gnomAD v2:
12-40757197-TCTGTAGG-T
gnomAD v4:
12-40363395-TCTGTAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363396_40363402del , CM000674.2:g.40363396_40363402del | GRCh38 |
| NC_000012.11:g.40757198_40757204del , CM000674.1:g.40757198_40757204del | GRCh37 |
| NC_000012.10:g.39043465_39043471del | NCBI36 |
| NG_011709.1:g.143386_143392del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7029-6_7029del | ||
| ENST00000636518.1:c.826-6_826del | ||
| ENST00000679360.1:c.*5938-6_*5938del | ||
| ENST00000679532.1:c.2803-6_2803del | ||
| ENST00000679683.1:c.819-6_819del | ||
| ENST00000680018.1:c.2474-6_2474del | ||
| ENST00000680422.1:c.4116-6_4116del | ||
| ENST00000680425.1:c.2196-6_2196del | ||
| ENST00000680453.1:c.2486-6_2486del | ||
| ENST00000680790.1:c.6774-6_6774del | ||
| ENST00000681136.1:n.3013-6_3013del | ||
| ENST00000681696.1:c.2712-6_2712del | ||
| ENST00000681773.1:n.236-6_236del | ||
| ENST00000298910.11:c.7029-6_7029del | ||
| ENST00000430804.5:c.4325-6_4325del | ||
| ENST00000479187.5:n.3710-6_3710del | ||
| NM_198578.3:c.7029-6_7029del | ||
| XM_005268629.2:c.7029-6_7029del | ||
| XM_011537877.1:c.7029-6_7029del | ||
| XM_011537879.1:c.5826-6_5826del | ||
| XR_944868.1:n.485-8575_485-8569del | ||
| XM_005268629.4:c.7029-6_7029del | ||
| XM_011537877.3:c.7029-6_7029del | ||
| XM_017018787.1:c.3945-6_3945del | ||
| XM_017018788.2:c.3291-6_3291del | ||
| XM_024448833.1:c.5826-6_5826del | ||
| XR_944868.2:n.485-8575_485-8569del | ||
| NM_198578.4:c.7029-6_7029del |