UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
54854
ClinVar RCV Id:
RCV001232187
dbSNP Id:
rs397509059
PubMed:
PMID:16287141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092177_43092178del , CM000679.2:g.43092177_43092178del | GRCh38 |
| NC_000017.10:g.41244194_41244195del , CM000679.1:g.41244194_41244195del | GRCh37 |
| NC_000017.9:g.38497720_38497721del | NCBI36 |
| NG_005905.2:g.125807_125808del , LRG_292:g.125807_125808del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3418_3419del | ||
| ENST00000461574.2:c.3354_3355del | ENSP00000417241.2:p.Gln1118HisfsTer3 | |
| ENST00000470026.6:c.3354_3355del | ENSP00000419274.2:p.Gln1118HisfsTer3 | |
| ENST00000473961.6:c.3228_3229del | ENSP00000420201.2:p.Gln1076HisfsTer3 | |
| ENST00000476777.6:c.3351_3352del | ENSP00000417554.2:p.Gln1117HisfsTer3 | |
| ENST00000477152.6:c.3276_3277del | ENSP00000419988.2:p.Gln1092HisfsTer3 | |
| ENST00000478531.6:c.785-1145_785-1144del | ENSP00000420412.2:n.785-1145_785-1144del | |
| ENST00000489037.2:c.3276_3277del | ENSP00000420781.2:p.Gln1092HisfsTer3 | |
| ENST00000493919.6:c.647-1145_647-1144del | ENSP00000418819.2:n.647-1145_647-1144del | |
| ENST00000494123.6:c.3354_3355del | ENSP00000419103.2:p.Gln1118HisfsTer3 | |
| ENST00000497488.2:c.2466_2467del | ENSP00000418986.2:p.Gln822HisfsTer3 | |
| ENST00000618469.2:c.3354_3355del | ENSP00000478114.2:p.Gln1118HisfsTer3 | |
| ENST00000634433.2:c.3231_3232del | ENSP00000489431.2:p.Gln1077HisfsTer3 | |
| ENST00000644379.2:c.3354_3355del | ENSP00000496570.2:p.Gln1118HisfsTer3 | |
| ENST00000644555.2:c.647-1145_647-1144del | ENSP00000494614.2:n.647-1145_647-1144del | |
| ENST00000652672.2:c.3213_3214del | ENSP00000498906.2:p.Gln1071HisfsTer3 | |
| ENST00000484087.6:c.665-1145_665-1144del | ENSP00000419481.2:n.665-1145_665-1144del | |
| ENST00000700182.1:c.707-1145_707-1144del | ENSP00000514849.1:n.707-1145_707-1144del | |
| ENST00000357654.9:c.3354_3355del MANE Select | ENSP00000350283.3:p.Gln1118HisfsTer3 | |
| ENST00000471181.7:c.3354_3355del | ENSP00000418960.2:p.Gln1118HisfsTer3 | |
| ENST00000352993.7:c.671-1145_671-1144del | ENSP00000312236.5:n.671-1145_671-1144del | |
| ENST00000354071.7:c.3354_3355del | ENSP00000326002.7:p.Gln1118HisfsTer3 | |
| ENST00000357654.7:c.3354_3355del | ENSP00000350283.3:p.Gln1118HisfsTer3 | |
| ENST00000461221.5:c.*3137_*3138del | ENSP00000418548.1:n.*3137_*3138del | |
| ENST00000468300.5:c.788-1145_788-1144del | ENSP00000417148.1:n.788-1145_788-1144del | |
| ENST00000471181.6:c.3354_3355del | ENSP00000418960.2:p.Gln1118HisfsTer3 | |
| ENST00000478531.5:c.785-1145_785-1144del | ENSP00000420412.1:n.785-1145_785-1144del | |
| ENST00000484087.5:c.410-1145_410-1144del | ENSP00000419481.1:n.410-1145_410-1144del | |
| ENST00000487825.5:c.413-1145_413-1144del | ENSP00000418212.1:n.413-1145_413-1144del | |
| ENST00000491747.6:c.788-1145_788-1144del | ENSP00000420705.2:n.788-1145_788-1144del | |
| ENST00000493795.5:c.3213_3214del | ENSP00000418775.1:p.Gln1071HisfsTer3 | |
| ENST00000493919.5:c.647-1145_647-1144del | ENSP00000418819.1:n.647-1145_647-1144del | |
| ENST00000586385.5:c.5-28226_5-28225del | ENSP00000465818.1:n.5-28226_5-28225del | |
| ENST00000591534.5:c.-43-17656_-43-17655del | ENSP00000467329.1:n.-43-17656_-43-17655del | |
| ENST00000591849.5:c.-99+33094_-99+33095del | ENSP00000465347.1:n.-99+33094_-99+33095del | |
| NM_007294.3:c.3354_3355del , LRG_292t1:c.3354_3355del | NP_009225.1:p.Gln1118HisfsTer3 | |
| NM_007297.3:c.3213_3214del | NP_009228.2:p.Gln1071HisfsTer3 | |
| NM_007298.3:c.788-1145_788-1144del | NP_009229.2:n.788-1145_788-1144del | |
| NM_007299.3:c.788-1145_788-1144del | NP_009230.2:n.788-1145_788-1144del | |
| NM_007300.3:c.3354_3355del | NP_009231.2:p.Gln1118HisfsTer3 | |
| NR_027676.1:n.3490_3491del | ||
| NM_007294.4:c.3354_3355del MANE Select | NP_009225.1:p.Gln1118HisfsTer3 | |
| NM_007297.4:c.3213_3214del | NP_009228.2:p.Gln1071HisfsTer3 | |
| NM_007299.4:c.788-1145_788-1144del | NP_009230.2:n.788-1145_788-1144del | |
| NM_007300.4:c.3354_3355del | NP_009231.2:p.Gln1118HisfsTer3 | |
| NR_027676.2:n.3531_3532del |