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:
37526
ClinVar RCV Id:
RCV001353566
dbSNP Id:
rs80357945
gnomAD v4:
17-43092171-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092173_43092174del , CM000679.2:g.43092173_43092174del | GRCh38 |
| NC_000017.10:g.41244190_41244191del , CM000679.1:g.41244190_41244191del | GRCh37 |
| NC_000017.9:g.38497716_38497717del | NCBI36 |
| NG_005905.2:g.125811_125812del , LRG_292:g.125811_125812del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3422_3423del | ||
| ENST00000461574.2:c.3358_3359del | ENSP00000417241.2:p.Val1120Ter | |
| ENST00000470026.6:c.3358_3359del | ENSP00000419274.2:p.Val1120Ter | |
| ENST00000473961.6:c.3232_3233del | ENSP00000420201.2:p.Val1078Ter | |
| ENST00000476777.6:c.3355_3356del | ENSP00000417554.2:p.Val1119Ter | |
| ENST00000477152.6:c.3280_3281del | ENSP00000419988.2:p.Val1094Ter | |
| ENST00000478531.6:c.785-1141_785-1140del | ENSP00000420412.2:n.785-1141_785-1140del | |
| ENST00000489037.2:c.3280_3281del | ENSP00000420781.2:p.Val1094Ter | |
| ENST00000493919.6:c.647-1141_647-1140del | ENSP00000418819.2:n.647-1141_647-1140del | |
| ENST00000494123.6:c.3358_3359del | ENSP00000419103.2:p.Val1120Ter | |
| ENST00000497488.2:c.2470_2471del | ENSP00000418986.2:p.Val824Ter | |
| ENST00000618469.2:c.3358_3359del | ENSP00000478114.2:p.Val1120Ter | |
| ENST00000634433.2:c.3235_3236del | ENSP00000489431.2:p.Val1079Ter | |
| ENST00000644379.2:c.3358_3359del | ENSP00000496570.2:p.Val1120Ter | |
| ENST00000644555.2:c.647-1141_647-1140del | ENSP00000494614.2:n.647-1141_647-1140del | |
| ENST00000652672.2:c.3217_3218del | ENSP00000498906.2:p.Val1073Ter | |
| ENST00000484087.6:c.665-1141_665-1140del | ENSP00000419481.2:n.665-1141_665-1140del | |
| ENST00000700182.1:c.707-1141_707-1140del | ENSP00000514849.1:n.707-1141_707-1140del | |
| ENST00000357654.9:c.3358_3359del MANE Select | ENSP00000350283.3:p.Val1120Ter | |
| ENST00000471181.7:c.3358_3359del | ENSP00000418960.2:p.Val1120Ter | |
| ENST00000352993.7:c.671-1141_671-1140del | ENSP00000312236.5:n.671-1141_671-1140del | |
| ENST00000354071.7:c.3358_3359del | ENSP00000326002.7:p.Val1120Ter | |
| ENST00000357654.7:c.3358_3359del | ENSP00000350283.3:p.Val1120Ter | |
| ENST00000461221.5:c.*3141_*3142del | ENSP00000418548.1:n.*3141_*3142del | |
| ENST00000468300.5:c.788-1141_788-1140del | ENSP00000417148.1:n.788-1141_788-1140del | |
| ENST00000471181.6:c.3358_3359del | ENSP00000418960.2:p.Val1120Ter | |
| ENST00000478531.5:c.785-1141_785-1140del | ENSP00000420412.1:n.785-1141_785-1140del | |
| ENST00000484087.5:c.410-1141_410-1140del | ENSP00000419481.1:n.410-1141_410-1140del | |
| ENST00000487825.5:c.413-1141_413-1140del | ENSP00000418212.1:n.413-1141_413-1140del | |
| ENST00000491747.6:c.788-1141_788-1140del | ENSP00000420705.2:n.788-1141_788-1140del | |
| ENST00000493795.5:c.3217_3218del | ENSP00000418775.1:p.Val1073Ter | |
| ENST00000493919.5:c.647-1141_647-1140del | ENSP00000418819.1:n.647-1141_647-1140del | |
| ENST00000586385.5:c.5-28222_5-28221del | ENSP00000465818.1:n.5-28222_5-28221del | |
| ENST00000591534.5:c.-43-17652_-43-17651del | ENSP00000467329.1:n.-43-17652_-43-17651de... | |
| ENST00000591849.5:c.-99+33098_-99+33099del | ENSP00000465347.1:n.-99+33098_-99+33099de... | |
| NM_007294.3:c.3358_3359del , LRG_292t1:c.3358_3359del | NP_009225.1:p.Val1120Ter | |
| NM_007297.3:c.3217_3218del | NP_009228.2:p.Val1073Ter | |
| NM_007298.3:c.788-1141_788-1140del | NP_009229.2:n.788-1141_788-1140del | |
| NM_007299.3:c.788-1141_788-1140del | NP_009230.2:n.788-1141_788-1140del | |
| NM_007300.3:c.3358_3359del | NP_009231.2:p.Val1120Ter | |
| NR_027676.1:n.3494_3495del | ||
| NM_007294.4:c.3358_3359del MANE Select | NP_009225.1:p.Val1120Ter | |
| NM_007297.4:c.3217_3218del | NP_009228.2:p.Val1073Ter | |
| NM_007299.4:c.788-1141_788-1140del | NP_009230.2:n.788-1141_788-1140del | |
| NM_007300.4:c.3358_3359del | NP_009231.2:p.Val1120Ter | |
| NR_027676.2:n.3535_3536del |