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:
2582210
ClinVar RCV Id:
RCV003332916
dbSNP Id:
rs1488196793
gnomAD v4:
16-89279298-A-AGCGTCTGCTGGATCACCTCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89279309_89279329dup , CM000678.2:g.89279309_89279329dup | GRCh38 |
| NC_000016.9:g.89345717_89345737dup , CM000678.1:g.89345717_89345737dup | GRCh37 |
| NC_000016.8:g.87873218_87873238dup | NCBI36 |
| NG_032003.1:g.216243_216263dup | |
| NG_032003.2:g.216243_216263dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301030.10:c.7223_7243dup MANE Select | ENSP00000301030.4:p.Thr2414_Leu2415insArg... | |
| ENST00000330736.10:c.*7026_*7046dup | ENSP00000330815.5:n.*7026_*7046dup | |
| ENST00000378330.7:c.7223_7243dup | ENSP00000367581.2:p.Thr2414_Leu2415insArg... | |
| ENST00000642600.1:c.7223_7243dup | ENSP00000495226.1:p.Thr2414_Leu2415insArg... | |
| ENST00000644285.1:c.745-4128_745-4108dup | ENSP00000496476.1:n.745-4128_745-4108dup | |
| ENST00000301030.8:c.7223_7243dup | ENSP00000301030.4:p.Thr2414_Leu2415insArg... | |
| ENST00000330736.9:c.*7026_*7046dup | ENSP00000330815.5:n.*7026_*7046dup | |
| ENST00000378330.6:c.7223_7243dup | ENSP00000367581.2:p.Thr2414_Leu2415insArg... | |
| ENST00000562194.1:c.152-4128_152-4108dup | ||
| ENST00000623388.1:n.398_418dup | ||
| NM_001256182.1:c.7223_7243dup | NP_001243111.1:p.Thr2414_Leu2415insArgGlu... | |
| NM_001256183.1:c.7223_7243dup | NP_001243112.1:p.Thr2414_Leu2415insArgGlu... | |
| NM_013275.5:c.7223_7243dup | NP_037407.4:p.Thr2414_Leu2415insArgGluVal... | |
| XM_006721181.1:c.7121_7141dup | XP_006721244.1:p.Thr2380_Leu2381insArgGlu... | |
| XM_006721184.2:c.6926_6946dup | XP_006721247.1:p.Thr2315_Leu2316insArgGlu... | |
| XM_011523051.1:c.7223_7243dup | XP_011521353.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_011523052.1:c.7223_7243dup | XP_011521354.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_011523053.1:c.7223_7243dup | XP_011521355.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_011523054.1:c.7121_7141dup | XP_011521356.1:p.Thr2380_Leu2381insArgGlu... | |
| XM_011523055.1:c.7121_7141dup | XP_011521357.1:p.Thr2380_Leu2381insArgGlu... | |
| XM_011523056.1:c.7094_7114dup | XP_011521358.1:p.Thr2371_Leu2372insArgGlu... | |
| XM_011523057.1:c.7223_7243dup | XP_011521359.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_011523051.3:c.7223_7243dup | XP_011521353.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_011523053.2:c.7223_7243dup | XP_011521355.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_011523054.2:c.7121_7141dup | XP_011521356.1:p.Thr2380_Leu2381insArgGlu... | |
| XM_011523055.2:c.7121_7141dup | XP_011521357.1:p.Thr2380_Leu2381insArgGlu... | |
| XM_011523056.2:c.7094_7114dup | XP_011521358.1:p.Thr2371_Leu2372insArgGlu... | |
| XM_011523057.2:c.7223_7243dup | XP_011521359.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_017023182.2:c.7223_7243dup | XP_016878671.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_017023183.1:c.7223_7243dup | XP_016878672.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_017023184.1:c.7223_7243dup | XP_016878673.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_017023185.1:c.7223_7243dup | XP_016878674.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_017023186.1:c.7223_7243dup | XP_016878675.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_017023187.1:c.7223_7243dup | XP_016878676.1:p.Thr2414_Leu2415insArgGlu... | |
| XM_024450244.1:c.7121_7141dup | XP_024306012.1:p.Thr2380_Leu2381insArgGlu... | |
| NM_013275.6:c.7223_7243dup MANE Select | NP_037407.4:p.Thr2414_Leu2415insArgGluVal... | |
| NM_001256182.2:c.7223_7243dup | NP_001243111.1:p.Thr2414_Leu2415insArgGlu... | |
| NM_001256183.2:c.7223_7243dup | NP_001243112.1:p.Thr2414_Leu2415insArgGlu... |