Linked Data
dbSNP Id:
rs781594420
ExAC:
16:47730258 GTTC / G
gnomAD v2:
16-47730258-GTTC-G
gnomAD v3:
16-47696347-GTTC-G
gnomAD v4:
16-47696347-GTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47696348_47696350del , CM000678.2:g.47696348_47696350del | GRCh38 |
| NC_000016.9:g.47730259_47730261del , CM000678.1:g.47730259_47730261del | GRCh37 |
| NC_000016.8:g.46287760_46287762del | NCBI36 |
| NG_016598.1:g.240050_240052del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*1470-33_*1470-31del | ENSP00000512887.1:n.*1470-33_*1470-31del | |
| ENST00000699276.1:c.*524-33_*524-31del | ENSP00000514257.1:n.*524-33_*524-31del | |
| ENST00000323584.10:c.2896-33_2896-31del MANE Select | ENSP00000313504.5:n.2896-33_2896-31del | |
| ENST00000299167.12:c.2896-33_2896-31del | ENSP00000299167.8:n.2896-33_2896-31del | |
| ENST00000323584.9:c.2896-33_2896-31del | ENSP00000313504.5:n.2896-33_2896-31del | |
| ENST00000566044.5:c.2875-33_2875-31del | ENSP00000456729.1:n.2875-33_2875-31del | |
| ENST00000566319.2:n.1712-33_1712-31del | ||
| NM_000293.2:c.2896-33_2896-31del | NP_000284.1:n.2896-33_2896-31del | |
| NM_001031835.2:c.2875-33_2875-31del | NP_001027005.1:n.2875-33_2875-31del | |
| XM_005255983.3:c.2896-33_2896-31del | XP_005256040.1:n.2896-33_2896-31del | |
| XM_005255984.3:c.2875-33_2875-31del | XP_005256041.1:n.2875-33_2875-31del | |
| XM_011523107.1:c.1474-33_1474-31del | XP_011521409.1:n.1474-33_1474-31del | |
| NM_001363837.1:c.2896-33_2896-31del | NP_001350766.1:n.2896-33_2896-31del | |
| XM_005255983.4:c.2896-33_2896-31del | XP_005256040.1:n.2896-33_2896-31del | |
| XM_005255984.4:c.2875-33_2875-31del | XP_005256041.1:n.2875-33_2875-31del | |
| XM_017023282.1:c.1783-33_1783-31del | XP_016878771.1:n.1783-33_1783-31del | |
| XM_017023283.1:c.1474-33_1474-31del | XP_016878772.1:n.1474-33_1474-31del | |
| XM_017023284.1:c.1474-33_1474-31del | XP_016878773.1:n.1474-33_1474-31del | |
| XR_001751913.1:n.2820-33_2820-31del | ||
| NM_000293.3:c.2896-33_2896-31del MANE Select | NP_000284.1:n.2896-33_2896-31del | |
| NM_001031835.3:c.2875-33_2875-31del | NP_001027005.1:n.2875-33_2875-31del |