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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69246666_69246667delinsAC , CM000671.2:g.69246666_69246667delinsAC | GRCh38 |
| NC_000009.11:g.71861582_71861583delinsAC , CM000671.1:g.71861582_71861583delinsAC | GRCh37 |
| NC_000009.10:g.71051402_71051403delinsAC | NCBI36 |
| NG_016342.1:g.130359_130360delinsAC | |
| NG_016342.2:g.150760_150761delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348208.9:c.2567-24_2567-23delinsAC | ENSP00000345893.4:n.2567-24_2567-23delins... | |
| ENST00000377245.9:c.2567-24_2567-23delinsAC MANE Select | ENSP00000366453.4:n.2567-24_2567-23delins... | |
| ENST00000498204.2:n.1980_1981delinsAC | ||
| ENST00000535702.6:c.2579-24_2579-23delinsAC | ENSP00000442090.1:n.2579-24_2579-23delins... | |
| ENST00000539225.2:c.2660-24_2660-23delinsAC | ENSP00000438262.1:n.2660-24_2660-23delins... | |
| ENST00000636247.1:n.2646-24_2646-23delinsAC | ||
| ENST00000636438.1:c.2744-24_2744-23delinsAC | ENSP00000489860.1:n.2744-24_2744-23delins... | |
| ENST00000642889.1:c.2954-24_2954-23delinsAC | ENSP00000493780.1:n.2954-24_2954-23delins... | |
| ENST00000643352.1:c.*2755-24_*2755-23delinsAC | ENSP00000496488.1:n.*2755-24_*2755-23deli... | |
| ENST00000645088.1:c.*2874-24_*2874-23delinsAC | ENSP00000495447.1:n.*2874-24_*2874-23deli... | |
| ENST00000647986.1:c.2498-24_2498-23delinsAC | ENSP00000496877.1:n.2498-24_2498-23delins... | |
| ENST00000648042.1:c.1276-24_1276-23delinsAC | ||
| ENST00000648087.1:n.2877-24_2877-23delinsAC | ||
| ENST00000649114.1:c.2567-24_2567-23delinsAC | ENSP00000497328.1:n.2567-24_2567-23delins... | |
| ENST00000649134.1:c.2579-24_2579-23delinsAC | ENSP00000498068.1:n.2579-24_2579-23delins... | |
| ENST00000649783.1:n.2591-24_2591-23delinsAC | ||
| ENST00000649927.1:n.112-24_112-23delinsAC | ||
| ENST00000649943.1:c.2567-24_2567-23delinsAC | ENSP00000497539.1:n.2567-24_2567-23delins... | |
| ENST00000650084.1:c.2570-24_2570-23delinsAC | ENSP00000497861.1:n.2570-24_2570-23delins... | |
| ENST00000650333.1:c.2498-24_2498-23delinsAC | ENSP00000496791.1:n.2498-24_2498-23delins... | |
| ENST00000650460.1:c.1840-6149_1840-6148delinsAC | ||
| ENST00000650522.1:n.2090-24_2090-23delinsAC | ||
| ENST00000265384.11:c.2567-24_2567-23delinsAC | ENSP00000265384.7:n.2567-24_2567-23delins... | |
| ENST00000348208.8:c.2567-24_2567-23delinsAC | ENSP00000345893.4:n.2567-24_2567-23delins... | |
| ENST00000377245.8:c.2567-24_2567-23delinsAC | ENSP00000366453.4:n.2567-24_2567-23delins... | |
| ENST00000453658.6:c.2498-24_2498-23delinsAC | ENSP00000392178.2:n.2498-24_2498-23delins... | |
| ENST00000498204.1:n.441_442delinsAC | ||
| ENST00000535702.5:c.2579-24_2579-23delinsAC | ENSP00000442090.1:n.2579-24_2579-23delins... | |
| ENST00000539225.1:c.2660-24_2660-23delinsAC | ENSP00000438262.1:n.2660-24_2660-23delins... | |
| NM_001170414.2:c.2498-24_2498-23delinsAC | NP_001163885.1:n.2498-24_2498-23delinsAC | |
| NM_001170415.1:c.2579-24_2579-23delinsAC | NP_001163886.1:n.2579-24_2579-23delinsAC | |
| NM_001170416.1:c.2660-24_2660-23delinsAC | NP_001163887.1:n.2660-24_2660-23delinsAC | |
| NM_001170630.1:c.2567-24_2567-23delinsAC | NP_001164101.1:n.2567-24_2567-23delinsAC | |
| NM_004817.3:c.2567-24_2567-23delinsAC | NP_004808.2:n.2567-24_2567-23delinsAC | |
| NM_201629.3:c.2567-24_2567-23delinsAC | NP_963923.1:n.2567-24_2567-23delinsAC | |
| XM_005252314.1:c.2579-24_2579-23delinsAC | XP_005252371.1:n.2579-24_2579-23delinsAC | |
| XM_006717324.2:c.2561-24_2561-23delinsAC | XP_006717387.1:n.2561-24_2561-23delinsAC | |
| XM_011519204.1:c.2498-24_2498-23delinsAC | XP_011517506.1:n.2498-24_2498-23delinsAC | |
| XM_011519205.1:c.2498-24_2498-23delinsAC | XP_011517507.1:n.2498-24_2498-23delinsAC | |
| XM_011519206.1:c.2498-24_2498-23delinsAC | XP_011517508.1:n.2498-24_2498-23delinsAC | |
| XM_011519207.1:c.2498-24_2498-23delinsAC | XP_011517509.1:n.2498-24_2498-23delinsAC | |
| XM_011519208.1:c.2498-24_2498-23delinsAC | XP_011517510.1:n.2498-24_2498-23delinsAC | |
| XM_011519209.1:c.2498-24_2498-23delinsAC | XP_011517511.1:n.2498-24_2498-23delinsAC | |
| NM_004817.4:c.2567-24_2567-23delinsAC MANE Select | NP_004808.2:n.2567-24_2567-23delinsAC | |
| XM_005252314.2:c.2579-24_2579-23delinsAC | XP_005252371.1:n.2579-24_2579-23delinsAC | |
| XM_011519206.2:c.2498-24_2498-23delinsAC | XP_011517508.1:n.2498-24_2498-23delinsAC | |
| XM_011519207.2:c.2498-24_2498-23delinsAC | XP_011517509.1:n.2498-24_2498-23delinsAC | |
| XM_011519208.2:c.2498-24_2498-23delinsAC | XP_011517510.1:n.2498-24_2498-23delinsAC | |
| XM_011519209.2:c.2498-24_2498-23delinsAC | XP_011517511.1:n.2498-24_2498-23delinsAC | |
| XM_017015327.2:c.2567-24_2567-23delinsAC | XP_016870816.1:n.2567-24_2567-23delinsAC | |
| XM_017015328.1:c.2579-24_2579-23delinsAC | XP_016870817.1:n.2579-24_2579-23delinsAC | |
| NM_001170416.2:c.2660-24_2660-23delinsAC | NP_001163887.1:n.2660-24_2660-23delinsAC | |
| NM_001369870.1:c.2492-24_2492-23delinsAC | NP_001356799.1:n.2492-24_2492-23delinsAC | |
| NM_001369871.1:c.2498-24_2498-23delinsAC | NP_001356800.1:n.2498-24_2498-23delinsAC | |
| NM_001369872.1:c.2567-24_2567-23delinsAC | NP_001356801.1:n.2567-24_2567-23delinsAC | |
| NM_001369873.1:c.2567-24_2567-23delinsAC | NP_001356802.1:n.2567-24_2567-23delinsAC | |
| NM_001369874.1:c.2579-24_2579-23delinsAC | NP_001356803.1:n.2579-24_2579-23delinsAC | |
| NM_001369875.1:c.2579-24_2579-23delinsAC | NP_001356804.1:n.2579-24_2579-23delinsAC |