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:
230056
ClinVar RCV Id:
RCV000216440
dbSNP Id:
rs876658358
MyVariant Identifiers:
chr16:g.23640971_23640993delinsATTGTACCTT (hg19)
chr16:g.23629650_23629672delinsATTGTACCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23629650_23629672delinsATTGTACCTT , CM000678.2:g.23629650_23629672delinsATTGTACCTT | GRCh38 |
| NC_000016.9:g.23640971_23640993delinsATTGTACCTT , CM000678.1:g.23640971_23640993delinsATTGTACCTT | GRCh37 |
| NC_000016.8:g.23548472_23548494delinsATTGTACCTT | NCBI36 |
| NG_007406.1:g.16686_16708delinsAAGGTACAAT , LRG_308:g.16686_16708delinsAAGGTACAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.2488_2510delinsAAGGTACAAT | ENSP00000460666.3:p.Cys830LysfsTer19 | |
| ENST00000565038.2:c.212-397_212-375delinsAAGGTACAAT | ENSP00000459882.2:n.212-397_212-375delinsAAGGTACAAT | |
| ENST00000566069.6:c.2482_2504delinsAAGGTACAAT | ENSP00000459237.2:p.Cys828LysfsTer19 | |
| ENST00000697377.2:c.2488_2510delinsAAGGTACAAT | ENSP00000513286.2:p.Cys830LysfsTer19 | |
| ENST00000697379.2:c.2488_2510delinsAAGGTACAAT | ENSP00000513287.2:p.Cys830LysfsTer19 | |
| ENST00000561514.2:c.1597_1619delinsAAGGTACAAT | ENSP00000460666.2:p.Cys533LysfsTer19 | |
| ENST00000697374.1:c.1597_1619delinsAAGGTACAAT | ENSP00000513284.1:p.Cys533LysfsTer19 | |
| ENST00000697375.1:n.3829_3851delinsAAGGTACAAT | ||
| ENST00000697376.1:c.1597_1619delinsAAGGTACAAT | ENSP00000513285.1:p.Cys533LysfsTer19 | |
| ENST00000697377.1:c.1597_1619delinsAAGGTACAAT | ENSP00000513286.1:p.Cys533LysfsTer19 | |
| ENST00000697378.1:n.3002_3024delinsAAGGTACAAT | ||
| ENST00000697379.1:c.1597_1619delinsAAGGTACAAT | ENSP00000513287.1:p.Cys533LysfsTer19 | |
| ENST00000697380.1:n.1410_1432delinsAAGGTACAAT | ||
| ENST00000697381.1:n.1177_1199delinsAAGGTACAAT | ||
| ENST00000697382.1:c.1597_1619delinsAAGGTACAAT | ENSP00000513288.1:p.Cys533LysfsTer19 | |
| ENST00000697383.1:c.49-397_49-375delinsAAGGTACAAT | ENSP00000513289.1:n.49-397_49-375delinsAAGGTACAAT | |
| ENST00000697384.1:n.2636_2658delinsAAGGTACAAT | ||
| ENST00000261584.9:c.2482_2504delinsAAGGTACAAT MANE Select | ENSP00000261584.4:p.Cys828LysfsTer19 | |
| ENST00000261584.8:c.2482_2504delinsAAGGTACAAT | ENSP00000261584.4:p.Cys828LysfsTer19 | |
| ENST00000565038.1:c.87-397_87-375delinsAAGGTACAAT | ||
| ENST00000568219.5:c.1597_1619delinsAAGGTACAAT | ENSP00000454703.2:p.Cys533LysfsTer19 | |
| NM_024675.3:c.2482_2504delinsAAGGTACAAT , LRG_308t1:c.2482_2504delinsAAGGTACAAT | NP_078951.2:p.Cys828LysfsTer19 | |
| XM_011545946.1:c.2488_2510delinsAAGGTACAAT | XP_011544248.1:p.Cys830LysfsTer19 | |
| XM_011545947.1:c.2488_2510delinsAAGGTACAAT | XP_011544249.1:p.Cys830LysfsTer19 | |
| XM_011545948.1:c.1597_1619delinsAAGGTACAAT | XP_011544250.1:p.Cys533LysfsTer19 | |
| XR_950851.1:n.3278_3300delinsAAGGTACAAT | ||
| XM_011545946.2:c.2488_2510delinsAAGGTACAAT | XP_011544248.1:p.Cys830LysfsTer19 | |
| XM_011545947.2:c.2488_2510delinsAAGGTACAAT | XP_011544249.1:p.Cys830LysfsTer19 | |
| XM_011545948.2:c.1597_1619delinsAAGGTACAAT | XP_011544250.1:p.Cys533LysfsTer19 | |
| XM_017023671.1:c.2488_2510delinsAAGGTACAAT | XP_016879160.1:p.Cys830LysfsTer19 | |
| XM_017023672.2:c.2482_2504delinsAAGGTACAAT | XP_016879161.1:p.Cys828LysfsTer19 | |
| XM_017023673.2:c.2482_2504delinsAAGGTACAAT | XP_016879162.1:p.Cys828LysfsTer19 | |
| NM_024675.4:c.2482_2504delinsAAGGTACAAT MANE Select | NP_078951.2:p.Cys828LysfsTer19 |