Linked Data
ClinVar Variation Id:
54997
ClinVar RCV Id:
RCV000257218
dbSNP Id:
rs397509103
PubMed:
PMID:15998910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091767_43091768del , CM000679.2:g.43091767_43091768del | GRCh38 |
| NC_000017.10:g.41243784_41243785del , CM000679.1:g.41243784_41243785del | GRCh37 |
| NC_000017.9:g.38497310_38497311del | NCBI36 |
| NG_005905.2:g.126216_126217del , LRG_292:g.126216_126217del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3827_3828del | ||
| ENST00000461574.2:c.3763_3764del | ENSP00000417241.2:p.Asn1255HisfsTer11 | |
| ENST00000470026.6:c.3763_3764del | ENSP00000419274.2:p.Asn1255HisfsTer11 | |
| ENST00000473961.6:c.3637_3638del | ENSP00000420201.2:p.Asn1213HisfsTer11 | |
| ENST00000476777.6:c.3760_3761del | ENSP00000417554.2:p.Asn1254HisfsTer11 | |
| ENST00000477152.6:c.3685_3686del | ENSP00000419988.2:p.Asn1229HisfsTer11 | |
| ENST00000478531.6:c.785-736_785-735del | ENSP00000420412.2:n.785-736_785-735del | |
| ENST00000489037.2:c.3685_3686del | ENSP00000420781.2:p.Asn1229HisfsTer11 | |
| ENST00000493919.6:c.647-736_647-735del | ENSP00000418819.2:n.647-736_647-735del | |
| ENST00000494123.6:c.3763_3764del | ENSP00000419103.2:p.Asn1255HisfsTer11 | |
| ENST00000497488.2:c.2875_2876del | ENSP00000418986.2:p.Asn959HisfsTer11 | |
| ENST00000618469.2:c.3763_3764del | ENSP00000478114.2:p.Asn1255HisfsTer11 | |
| ENST00000634433.2:c.3640_3641del | ENSP00000489431.2:p.Asn1214HisfsTer11 | |
| ENST00000644379.2:c.3763_3764del | ENSP00000496570.2:p.Asn1255HisfsTer11 | |
| ENST00000644555.2:c.647-736_647-735del | ENSP00000494614.2:n.647-736_647-735del | |
| ENST00000652672.2:c.3622_3623del | ENSP00000498906.2:p.Asn1208HisfsTer11 | |
| ENST00000484087.6:c.665-736_665-735del | ENSP00000419481.2:n.665-736_665-735del | |
| ENST00000700182.1:c.707-736_707-735del | ENSP00000514849.1:n.707-736_707-735del | |
| ENST00000357654.9:c.3763_3764del MANE Select | ENSP00000350283.3:p.Asn1255HisfsTer11 | |
| ENST00000471181.7:c.3763_3764del | ENSP00000418960.2:p.Asn1255HisfsTer11 | |
| ENST00000644379.1:c.84_85del | ||
| ENST00000352993.7:c.671-736_671-735del | ENSP00000312236.5:n.671-736_671-735del | |
| ENST00000354071.7:c.3763_3764del | ENSP00000326002.7:p.Asn1255HisfsTer11 | |
| ENST00000357654.7:c.3763_3764del | ENSP00000350283.3:p.Asn1255HisfsTer11 | |
| ENST00000461221.5:c.*3546_*3547del | ENSP00000418548.1:n.*3546_*3547del | |
| ENST00000461574.1:c.57_58del | ||
| ENST00000468300.5:c.788-736_788-735del | ENSP00000417148.1:n.788-736_788-735del | |
| ENST00000471181.6:c.3763_3764del | ENSP00000418960.2:p.Asn1255HisfsTer11 | |
| ENST00000478531.5:c.785-736_785-735del | ENSP00000420412.1:n.785-736_785-735del | |
| ENST00000484087.5:c.410-736_410-735del | ENSP00000419481.1:n.410-736_410-735del | |
| ENST00000487825.5:c.413-736_413-735del | ENSP00000418212.1:n.413-736_413-735del | |
| ENST00000491747.6:c.788-736_788-735del | ENSP00000420705.2:n.788-736_788-735del | |
| ENST00000493795.5:c.3622_3623del | ENSP00000418775.1:p.Asn1208HisfsTer11 | |
| ENST00000493919.5:c.647-736_647-735del | ENSP00000418819.1:n.647-736_647-735del | |
| ENST00000586385.5:c.5-27817_5-27816del | ENSP00000465818.1:n.5-27817_5-27816del | |
| ENST00000591534.5:c.-43-17247_-43-17246del | ENSP00000467329.1:n.-43-17247_-43-17246de... | |
| ENST00000591849.5:c.-99+33503_-99+33504del | ENSP00000465347.1:n.-99+33503_-99+33504de... | |
| NM_007294.3:c.3763_3764del , LRG_292t1:c.3763_3764del | NP_009225.1:p.Asn1255HisfsTer11 | |
| NM_007297.3:c.3622_3623del | NP_009228.2:p.Asn1208HisfsTer11 | |
| NM_007298.3:c.788-736_788-735del | NP_009229.2:n.788-736_788-735del | |
| NM_007299.3:c.788-736_788-735del | NP_009230.2:n.788-736_788-735del | |
| NM_007300.3:c.3763_3764del | NP_009231.2:p.Asn1255HisfsTer11 | |
| NR_027676.1:n.3899_3900del | ||
| NM_007294.4:c.3763_3764del MANE Select | NP_009225.1:p.Asn1255HisfsTer11 | |
| NM_007297.4:c.3622_3623del | NP_009228.2:p.Asn1208HisfsTer11 | |
| NM_007299.4:c.788-736_788-735del | NP_009230.2:n.788-736_788-735del | |
| NM_007300.4:c.3763_3764del | NP_009231.2:p.Asn1255HisfsTer11 | |
| NR_027676.2:n.3940_3941del |