Linked Data
dbSNP Id:
rs764604721
ExAC:
12:124228852 GA / G
gnomAD v2:
12-124228852-GA-G
gnomAD v4:
12-123744305-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744309del , CM000674.2:g.123744309del | GRCh38 |
| NC_000012.11:g.124228856del , CM000674.1:g.124228856del | GRCh37 |
| NC_000012.10:g.122794809del | NCBI36 |
| NG_012743.1:g.36992del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1298del MANE Select | ENSP00000332247.2:p.Asn433IlefsTer5 | |
| ENST00000540368.6:n.1329del | ||
| ENST00000674794.1:c.1386del | ||
| ENST00000675260.1:n.573del | ||
| ENST00000675344.1:c.*319del | ENSP00000501953.1:n.*319del | |
| ENST00000330342.7:c.1298del | ENSP00000332247.2:p.Asn433IlefsTer5 | |
| ENST00000504192.2:c.908del | ENSP00000443441.1:p.Asn303IlefsTer5 | |
| ENST00000536426.1:n.315del | ||
| ENST00000545059.5:n.3934del | ||
| NM_012463.3:c.1298del | NP_036595.2:p.Asn433IlefsTer5 | |
| XM_005253563.1:c.1298del | XP_005253620.1:p.Asn433IlefsTer5 | |
| XM_006719317.2:c.785del | XP_006719380.1:p.Asn262IlefsTer5 | |
| XM_006719318.2:c.476del | XP_006719381.1:p.Asn159IlefsTer5 | |
| XR_429088.1:n.1461del | ||
| XM_024448910.1:c.1298del | XP_024304678.1:p.Asn433IlefsTer5 | |
| XM_024448911.1:c.785del | XP_024304679.1:p.Asn262IlefsTer5 | |
| XM_024448912.1:c.476del | XP_024304680.1:p.Asn159IlefsTer5 | |
| NM_012463.4:c.1298del MANE Select | NP_036595.2:p.Asn433IlefsTer5 |