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_000007.14:g.140002731_140002732delinsCA , CM000669.2:g.140002731_140002732delinsCA | GRCh38 |
| NC_000007.13:g.139702530_139702531delinsCA , CM000669.1:g.139702530_139702531delinsCA | GRCh37 |
| NC_000007.12:g.139348999_139349000delinsCA | NCBI36 |
| NG_008422.2:g.229350_229351delinsCA , LRG_579:g.229350_229351delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336425.10:c.1135-4360_1135-4359delinsCA | ENSP00000338087.7:n.1135-4360_1135-4359delinsCA | |
| ENST00000411653.6:c.1135-4360_1135-4359delinsCA | ENSP00000411326.3:n.1135-4360_1135-4359delinsCA | |
| ENST00000422328.6:c.*924-4360_*924-4359delinsCA | ENSP00000415892.3:n.*924-4360_*924-4359delinsCA | |
| ENST00000448866.7:c.1135-4360_1135-4359delinsCA MANE Select | ENSP00000402536.3:n.1135-4360_1135-4359delinsCA | |
| ENST00000458722.6:c.1273-4360_1273-4359delinsCA | ENSP00000411274.3:n.1273-4360_1273-4359delinsCA | |
| ENST00000650822.1:c.1138-4360_1138-4359delinsCA | ENSP00000498517.1:n.1138-4360_1138-4359delinsCA | |
| ENST00000652056.1:c.1138-4360_1138-4359delinsCA | ENSP00000498271.1:n.1138-4360_1138-4359delinsCA | |
| ENST00000263552.10:c.1138-4360_1138-4359delinsCA | ENSP00000263552.6:n.1138-4360_1138-4359delinsCA | |
| ENST00000336425.9:c.1135-4360_1135-4359delinsCA | ENSP00000338087.5:n.1135-4360_1135-4359delinsCA | |
| ENST00000411653.5:c.1135-4360_1135-4359delinsCA | ENSP00000411326.1:n.1135-4360_1135-4359delinsCA | |
| ENST00000414508.6:c.1138-4360_1138-4359delinsCA | ENSP00000392702.2:n.1138-4360_1138-4359delinsCA | |
| ENST00000416849.6:c.1276-4360_1276-4359delinsCA | ENSP00000389414.2:n.1276-4360_1276-4359delinsCA | |
| ENST00000422328.5:c.*924-4360_*924-4359delinsCA | ENSP00000415892.1:n.*924-4360_*924-4359delinsCA | |
| ENST00000425687.5:c.934-4360_934-4359delinsCA | ENSP00000388736.1:n.934-4360_934-4359delinsCA | |
| ENST00000448866.5:c.1135-4360_1135-4359delinsCA | ENSP00000402536.1:n.1135-4360_1135-4359delinsCA | |
| ENST00000458722.5:c.1273-4360_1273-4359delinsCA | ENSP00000411274.1:n.1273-4360_1273-4359delinsCA | |
| ENST00000462275.5:n.1106-4360_1106-4359delinsCA | ||
| NM_001061.4:c.1138-4360_1138-4359delinsCA | NP_001052.2:n.1138-4360_1138-4359delinsCA | |
| NM_001130966.2:c.1138-4360_1138-4359delinsCA , LRG_579t1:c.1138-4360_1138-4359delinsCA | NP_001124438.1:n.1138-4360_1138-4359delinsCA | |
| NM_001166253.1:c.1276-4360_1276-4359delinsCA , LRG_579t4:c.1276-4360_1276-4359delinsCA | NP_001159725.1:n.1276-4360_1276-4359delinsCA | |
| NM_001166254.1:c.934-4360_934-4359delinsCA , LRG_579t3:c.934-4360_934-4359delinsCA | NP_001159726.1:n.934-4360_934-4359delinsCA | |
| NM_001314028.1:c.1078-4360_1078-4359delinsCA | NP_001300957.1:n.1078-4360_1078-4359delinsCA | |
| NM_030984.3:c.1138-4360_1138-4359delinsCA , LRG_579t2:c.1138-4360_1138-4359delinsCA | NP_112246.2:n.1138-4360_1138-4359delinsCA | |
| NR_029394.1:c.-4294965894-4360_-4294965894-4359delinsCA | ||
| XM_011516544.1:c.1138-4360_1138-4359delinsCA | XP_011514846.1:n.1138-4360_1138-4359delinsCA | |
| NM_001061.5:c.1135-4360_1135-4359delinsCA | NP_001052.3:n.1135-4360_1135-4359delinsCA | |
| NM_001130966.3:c.1135-4360_1135-4359delinsCA | NP_001124438.2:n.1135-4360_1135-4359delinsCA | |
| NM_001166253.2:c.1273-4360_1273-4359delinsCA | NP_001159725.2:n.1273-4360_1273-4359delinsCA | |
| NM_001166254.2:c.934-4360_934-4359delinsCA | NP_001159726.1:n.934-4360_934-4359delinsCA | |
| NM_001314028.2:c.1078-4360_1078-4359delinsCA | NP_001300957.1:n.1078-4360_1078-4359delinsCA | |
| NM_001366537.1:c.952-4360_952-4359delinsCA | NP_001353466.1:n.952-4360_952-4359delinsCA | |
| NM_030984.4:c.1135-4360_1135-4359delinsCA | NP_112246.3:n.1135-4360_1135-4359delinsCA | |
| XM_011516544.3:c.1138-4360_1138-4359delinsCA | XP_011514846.1:n.1138-4360_1138-4359delinsCA | |
| XM_024446901.1:c.880-4360_880-4359delinsCA | XP_024302669.1:n.880-4360_880-4359delinsCA | |
| NM_001061.7:c.1135-4360_1135-4359delinsCA MANE Select | NP_001052.3:n.1135-4360_1135-4359delinsCA | |
| NM_001130966.4:c.1135-4360_1135-4359delinsCA | NP_001124438.2:n.1135-4360_1135-4359delinsCA | |
| NM_001166253.3:c.1273-4360_1273-4359delinsCA | NP_001159725.2:n.1273-4360_1273-4359delinsCA | |
| NM_001166254.3:c.934-4360_934-4359delinsCA | NP_001159726.1:n.934-4360_934-4359delinsCA | |
| NM_001314028.3:c.1078-4360_1078-4359delinsCA | NP_001300957.1:n.1078-4360_1078-4359delinsCA | |
| NM_001366537.2:c.952-4360_952-4359delinsCA | NP_001353466.1:n.952-4360_952-4359delinsCA | |
| NM_030984.5:c.1135-4360_1135-4359delinsCA | NP_112246.3:n.1135-4360_1135-4359delinsCA | |
| NM_001130966.5:c.1135-4360_1135-4359delinsCA | NP_001124438.2:n.1135-4360_1135-4359delinsCA | |
| NM_001166253.4:c.1273-4360_1273-4359delinsCA | NP_001159725.2:n.1273-4360_1273-4359delinsCA | |
| NM_001166254.4:c.934-4360_934-4359delinsCA | NP_001159726.1:n.934-4360_934-4359delinsCA | |
| NM_001314028.4:c.1078-4360_1078-4359delinsCA | NP_001300957.1:n.1078-4360_1078-4359delinsCA | |
| NM_001366537.3:c.952-4360_952-4359delinsCA | NP_001353466.1:n.952-4360_952-4359delinsCA | |
| NM_030984.6:c.1135-4360_1135-4359delinsCA | NP_112246.3:n.1135-4360_1135-4359delinsCA |