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:
3705
dbSNP Id:
rs387906302
MyVariant Identifiers:
chr19:g.11240246_11240249dupAGAA (hg19)
chr19:g.11129570_11129573dupAGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129570_11129573dup , CM000681.2:g.11129570_11129573dup | GRCh38 |
| NC_000019.9:g.11240246_11240249dup , CM000681.1:g.11240246_11240249dup | GRCh37 |
| NC_000019.8:g.11101246_11101249dup | NCBI36 |
| NG_009060.1:g.45190_45193dup , LRG_274:g.45190_45193dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.2705_2708dup | ENSP00000252444.6:p.Asn903LysfsTer9 | |
| ENST00000559340.2:c.*516_*519dup | ENSP00000453696.2:n.*516_*519dup | |
| ENST00000560467.2:c.2327_2330dup | ENSP00000453513.2:p.Asn777LysfsTer9 | |
| ENST00000558518.6:c.2447_2450dup MANE Select | ENSP00000454071.1:p.Asn817LysfsTer9 | |
| ENST00000252444.9:c.2701_2704dup | ||
| ENST00000455727.6:c.1943_1946dup | ENSP00000397829.2:p.Asn649LysfsTer9 | |
| ENST00000535915.5:c.2324_2327dup | ENSP00000440520.1:p.Asn776LysfsTer9 | |
| ENST00000545707.5:c.1913_1916dup | ENSP00000437639.1:p.Asn639LysfsTer9 | |
| ENST00000557933.5:c.2509_2512dup | ENSP00000453557.1:p.Thr838LysfsTer? | |
| ENST00000558013.5:c.2447_2450dup | ENSP00000453346.1:p.Asn817LysfsTer9 | |
| ENST00000558518.5:c.2447_2450dup | ENSP00000454071.1:p.Asn817LysfsTer9 | |
| ENST00000560628.1:n.108+1916_108+1919dup | ||
| NM_000527.4:c.2447_2450dup , LRG_274t1:c.2447_2450dup | NP_000518.1:p.Asn817LysfsTer9 | |
| NM_001195798.1:c.2447_2450dup | NP_001182727.1:p.Asn817LysfsTer9 | |
| NM_001195799.1:c.2324_2327dup | NP_001182728.1:p.Asn776LysfsTer9 | |
| NM_001195800.1:c.1943_1946dup | NP_001182729.1:p.Asn649LysfsTer9 | |
| NM_001195803.1:c.1913_1916dup | NP_001182732.1:p.Asn639LysfsTer9 | |
| XM_011528010.1:c.2369_2372dup | XP_011526312.1:p.Asn791LysfsTer9 | |
| XM_011528011.1:c.2066_2069dup | XP_011526313.1:p.Asn690LysfsTer9 | |
| XR_244074.2:n.2457_2460dup | ||
| XM_011528010.2:c.2369_2372dup | XP_011526312.1:p.Asn791LysfsTer9 | |
| XR_001753685.2:n.2781_2784dup | ||
| XR_001753686.2:n.2424_2427dup | ||
| NM_000527.5:c.2447_2450dup MANE Select | NP_000518.1:p.Asn817LysfsTer9 | |
| NM_001195798.2:c.2447_2450dup | NP_001182727.1:p.Asn817LysfsTer9 | |
| NM_001195799.2:c.2324_2327dup | NP_001182728.1:p.Asn776LysfsTer9 | |
| NM_001195800.2:c.1943_1946dup | NP_001182729.1:p.Asn649LysfsTer9 | |
| NM_001195803.2:c.1913_1916dup | NP_001182732.1:p.Asn639LysfsTer9 |