Linked Data
dbSNP Id:
rs369501050
ExAC:
12:124228916 TG / T
gnomAD v2:
12-124228916-TG-T
gnomAD v3:
12-123744369-TG-T
gnomAD v4:
12-123744369-TG-T
MyVariant Identifiers:
chr12:g.124228917del (hg19)
chr12:g.123744371del (hg38)
chr12:g.123744370del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744371del , CM000674.2:g.123744371del | GRCh38 |
| NC_000012.11:g.124228918del , CM000674.1:g.124228918del | GRCh37 |
| NC_000012.10:g.122794871del | NCBI36 |
| NG_012743.1:g.37054del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1326+34del MANE Select | ENSP00000332247.2:n.1326+34del | |
| ENST00000540368.6:n.1357+34del | ||
| ENST00000674794.1:c.1414+34del | ||
| ENST00000675260.1:n.601+34del | ||
| ENST00000675344.1:c.*347+34del | ENSP00000501953.1:n.*347+34del | |
| ENST00000330342.7:c.1326+34del | ENSP00000332247.2:n.1326+34del | |
| ENST00000504192.2:c.936+34del | ENSP00000443441.1:n.936+34del | |
| ENST00000536426.1:n.343+34del | ||
| ENST00000545059.5:n.3962+34del | ||
| NM_012463.3:c.1326+34del | NP_036595.2:n.1326+34del | |
| XM_005253563.1:c.1326+34del | XP_005253620.1:n.1326+34del | |
| XM_006719317.2:c.813+34del | XP_006719380.1:n.813+34del | |
| XM_006719318.2:c.504+34del | XP_006719381.1:n.504+34del | |
| XR_429088.1:n.1489+34del | ||
| XM_024448910.1:c.1326+34del | XP_024304678.1:n.1326+34del | |
| XM_024448911.1:c.813+34del | XP_024304679.1:n.813+34del | |
| XM_024448912.1:c.504+34del | XP_024304680.1:n.504+34del | |
| NM_012463.4:c.1326+34del MANE Select | NP_036595.2:n.1326+34del |