Linked Data
ClinVar Variation Id:
374883
dbSNP Id:
rs1057519287
gnomAD v4:
1-29216611-GGATT-G
PubMed:
PMID:27817865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.29216615_29216618del , CM000663.2:g.29216615_29216618del | GRCh38 |
| NC_000001.10:g.29543127_29543130del , CM000663.1:g.29543127_29543130del | GRCh37 |
| NC_000001.9:g.29415714_29415717del | NCBI36 |
| NG_053058.1:g.19344_19347del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263702.11:c.247_250del MANE Select | ENSP00000263702.6:p.Asn83HisfsTer4 | |
| ENST00000263702.10:c.247_250del | ENSP00000263702.6:p.Asn83HisfsTer4 | |
| ENST00000373791.7:c.19_22del | ENSP00000362896.3:p.Asn7HisfsTer4 | |
| ENST00000463052.5:n.574_577del | ||
| ENST00000464915.1:n.565_568del | ||
| ENST00000474946.5:n.340_343del | ||
| ENST00000475861.6:n.449_452del | ||
| ENST00000478505.6:n.146_149del | ||
| ENST00000482610.1:n.499_502del | ||
| ENST00000484012.5:n.584_587del | ||
| ENST00000489248.5:n.573_576del | ||
| ENST00000490529.5:n.235_238del | ||
| NM_001024732.2:c.19_22del | NP_001019903.2:p.Asn7HisfsTer4 | |
| NM_016011.3:c.247_250del | NP_057095.3:p.Asn83HisfsTer4 | |
| XM_005245885.1:c.331_334del | XP_005245942.1:p.Asn111HisfsTer4 | |
| XM_005245887.1:c.19_22del | XP_005245944.1:p.Asn7HisfsTer4 | |
| XM_011541539.1:c.331_334del | XP_011539841.1:p.Asn111HisfsTer4 | |
| XM_011541540.1:c.247_250del | XP_011539842.1:p.Asn83HisfsTer4 | |
| XM_011541541.1:c.331_334del | XP_011539843.1:p.Asn111HisfsTer4 | |
| XM_011541542.1:c.19_22del | XP_011539844.1:p.Asn7HisfsTer4 | |
| XM_011541543.1:c.19_22del | XP_011539845.1:p.Asn7HisfsTer4 | |
| XM_011541544.1:c.19_22del | XP_011539846.1:p.Asn7HisfsTer4 | |
| XM_011541545.1:c.19_22del | XP_011539847.1:p.Asn7HisfsTer4 | |
| XM_011541546.1:c.19_22del | XP_011539848.1:p.Asn7HisfsTer4 | |
| XM_011541547.1:c.19_22del | XP_011539849.1:p.Asn7HisfsTer4 | |
| XM_011541548.1:c.19_22del | XP_011539850.1:p.Asn7HisfsTer4 | |
| XM_011541549.1:c.19_22del | XP_011539851.1:p.Asn7HisfsTer4 | |
| XM_011541550.1:c.19_22del | XP_011539852.1:p.Asn7HisfsTer4 | |
| XM_011541551.1:c.19_22del | XP_011539853.1:p.Asn7HisfsTer4 | |
| XM_011541552.1:c.19_22del | XP_011539854.1:p.Asn7HisfsTer4 | |
| XM_011541553.1:c.19_22del | XP_011539855.1:p.Asn7HisfsTer4 | |
| XM_011541554.1:c.19_22del | XP_011539856.1:p.Asn7HisfsTer4 | |
| XR_946662.1:n.349_352del | ||
| XR_946663.1:n.349_352del | ||
| XR_946664.1:n.349_352del | ||
| NM_001024732.3:c.19_22del | NP_001019903.3:p.Asn7HisfsTer4 | |
| NM_001349711.1:c.19_22del | NP_001336640.1:p.Asn7HisfsTer4 | |
| NM_001349712.1:c.19_22del | NP_001336641.1:p.Asn7HisfsTer4 | |
| NM_001349713.1:c.19_22del | NP_001336642.1:p.Asn7HisfsTer4 | |
| NM_001349714.1:c.19_22del | NP_001336643.1:p.Asn7HisfsTer4 | |
| NM_001349715.1:c.352_355del | NP_001336644.1:p.Asn118HisfsTer4 | |
| NM_001349716.1:c.331_334del | NP_001336645.1:p.Asn111HisfsTer4 | |
| NM_001349717.1:c.97_100del | NP_001336646.1:p.Asn33HisfsTer4 | |
| NM_016011.4:c.247_250del | NP_057095.4:p.Asn83HisfsTer4 | |
| NR_146212.1:n.426_429del | ||
| NR_146213.1:n.299_302del | ||
| NR_146214.1:n.510_513del | ||
| NR_146215.1:n.426_429del | ||
| XM_011541540.2:c.247_250del | XP_011539842.1:p.Asn83HisfsTer4 | |
| XM_017001411.1:c.19_22del | XP_016856900.1:p.Asn7HisfsTer4 | |
| XM_017001412.1:c.19_22del | XP_016856901.1:p.Asn7HisfsTer4 | |
| XM_017001413.1:c.19_22del | XP_016856902.1:p.Asn7HisfsTer4 | |
| XM_017001416.1:c.19_22del | XP_016856905.1:p.Asn7HisfsTer4 | |
| XM_024447442.1:c.19_22del | XP_024303210.1:p.Asn7HisfsTer4 | |
| XM_024447443.1:c.19_22del | XP_024303211.1:p.Asn7HisfsTer4 | |
| XM_024447444.1:c.19_22del | XP_024303212.1:p.Asn7HisfsTer4 | |
| XM_024447446.1:c.19_22del | XP_024303214.1:p.Asn7HisfsTer4 | |
| XM_024447448.1:c.19_22del | XP_024303216.1:p.Asn7HisfsTer4 | |
| XM_024447450.1:c.19_22del | XP_024303218.1:p.Asn7HisfsTer4 | |
| XM_024447452.1:c.19_22del | XP_024303220.1:p.Asn7HisfsTer4 | |
| XR_001737209.1:n.349_352del | ||
| XR_001737210.1:n.618_621del | ||
| XR_002956765.1:n.397_400del | ||
| XR_946663.2:n.349_352del | ||
| NM_001024732.4:c.19_22del | NP_001019903.3:p.Asn7HisfsTer4 | |
| NM_001349711.2:c.19_22del | NP_001336640.1:p.Asn7HisfsTer4 | |
| NM_001349712.2:c.19_22del | NP_001336641.1:p.Asn7HisfsTer4 | |
| NM_001349713.2:c.19_22del | NP_001336642.1:p.Asn7HisfsTer4 | |
| NM_001349714.2:c.19_22del | NP_001336643.1:p.Asn7HisfsTer4 | |
| NM_001349715.2:c.352_355del | NP_001336644.1:p.Asn118HisfsTer4 | |
| NM_001349716.2:c.331_334del | NP_001336645.1:p.Asn111HisfsTer4 | |
| NM_001349717.2:c.97_100del | NP_001336646.1:p.Asn33HisfsTer4 | |
| NM_016011.5:c.247_250del MANE Select | NP_057095.4:p.Asn83HisfsTer4 | |
| NR_146212.2:n.402_405del | ||
| NR_146213.2:n.275_278del | ||
| NR_146214.2:n.486_489del | ||
| NR_146215.2:n.402_405del |