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
dbSNP Id:
rs1425548724
gnomAD v3:
3-12294044-GGCTAGTT-G
gnomAD v4:
3-12294044-GGCTAGTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12294048_12294054del , CM000665.2:g.12294048_12294054del | GRCh38 |
| NC_000003.11:g.12335547_12335553del , CM000665.1:g.12335547_12335553del | GRCh37 |
| NC_000003.10:g.12310547_12310553del | NCBI36 |
| NG_011749.1:g.11199_11205del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.-83+6028_-83+6034del | ENSP00000507572.1:n.-83+6028_-83+6034del | |
| ENST00000681982.1:c.-171+4914_-171+4920del | ENSP00000508065.1:n.-171+4914_-171+4920de... | |
| ENST00000309576.11:c.-83+6028_-83+6034del | ENSP00000312472.7:n.-83+6028_-83+6034del | |
| ENST00000397010.7:c.-83+6373_-83+6379del | ENSP00000380205.3:n.-83+6373_-83+6379del | |
| ENST00000397015.7:c.-9+6028_-9+6034del | ENSP00000380210.3:n.-9+6028_-9+6034del | |
| ENST00000397026.7:c.-344+4914_-344+4920del | ENSP00000380221.3:n.-344+4914_-344+4920de... | |
| ENST00000397029.8:c.-9+6373_-9+6379del | ENSP00000380224.4:n.-9+6373_-9+6379del | |
| ENST00000455517.6:c.-9+4914_-9+4920del | ENSP00000411931.2:n.-9+4914_-9+4920del | |
| ENST00000643197.2:c.-412+6028_-412+6034del | ENSP00000495840.2:n.-412+6028_-412+6034de... | |
| ENST00000643888.2:c.-171+6028_-171+6034del | ENSP00000494934.2:n.-171+6028_-171+6034de... | |
| ENST00000644622.2:c.-483-3821_-483-3815del | ENSP00000494873.2:n.-483-3821_-483-3815de... | |
| ENST00000651735.1:c.-83+4914_-83+4920del MANE Select | ENSP00000498313.1:n.-83+4914_-83+4920del | |
| ENST00000652098.1:c.-92+4914_-92+4920del | ENSP00000498300.1:n.-92+4914_-92+4920del | |
| ENST00000652431.1:c.-167+4914_-167+4920del | ENSP00000498717.1:n.-167+4914_-167+4920de... | |
| ENST00000652522.1:c.-154-3821_-154-3815del | ENSP00000498500.1:n.-154-3821_-154-3815de... | |
| ENST00000309576.10:c.-77+6028_-77+6034del | ENSP00000312472.6:n.-77+6028_-77+6034del | |
| ENST00000397010.6:c.-77+6373_-77+6379del | ENSP00000380205.2:n.-77+6373_-77+6379del | |
| ENST00000397012.6:c.-77+4914_-77+4920del | ENSP00000380207.2:n.-77+4914_-77+4920del | |
| ENST00000397015.6:c.-3+6028_-3+6034del | ENSP00000380210.2:n.-3+6028_-3+6034del | |
| ENST00000397026.6:c.-320+4914_-320+4920del | ENSP00000380221.2:n.-320+4914_-320+4920de... | |
| ENST00000397029.7:c.-3+6373_-3+6379del | ENSP00000380224.3:n.-3+6373_-3+6379del | |
| ENST00000455517.5:c.-3+4914_-3+4920del | ENSP00000411931.1:n.-3+4914_-3+4920del | |
| ENST00000497594.5:n.24+4914_24+4920del | ||
| NM_005037.5:c.-3+6028_-3+6034del | NP_005028.4:n.-3+6028_-3+6034del | |
| NM_138711.3:c.-77+4914_-77+4920del | NP_619725.2:n.-77+4914_-77+4920del | |
| NM_138712.3:c.-77+6028_-77+6034del | NP_619726.2:n.-77+6028_-77+6034del | |
| XM_011533841.1:c.-3+4914_-3+4920del | XP_011532143.1:n.-3+4914_-3+4920del | |
| XM_011533844.1:c.-77+4914_-77+4920del | XP_011532146.1:n.-77+4914_-77+4920del | |
| NM_001354666.1:c.-77+6373_-77+6379del | NP_001341595.1:n.-77+6373_-77+6379del | |
| NM_001354667.1:c.-3+4914_-3+4920del | NP_001341596.1:n.-3+4914_-3+4920del | |
| NM_001354669.1:c.-510+6028_-510+6034del | NP_001341598.1:n.-510+6028_-510+6034del | |
| NM_001354670.1:c.-77+4914_-77+4920del | NP_001341599.1:n.-77+4914_-77+4920del | |
| NM_001330615.2:c.-77+4914_-77+4920del | NP_001317544.1:n.-77+4914_-77+4920del | |
| NM_001354666.2:c.-77+6373_-77+6379del | NP_001341595.1:n.-77+6373_-77+6379del | |
| NM_001354667.2:c.-3+4914_-3+4920del | NP_001341596.1:n.-3+4914_-3+4920del | |
| NM_001354669.2:c.-510+6028_-510+6034del | NP_001341598.1:n.-510+6028_-510+6034del | |
| NM_001354670.2:c.-77+4914_-77+4920del | NP_001341599.1:n.-77+4914_-77+4920del | |
| NM_001374261.1:c.-77+6028_-77+6034del | NP_001361190.1:n.-77+6028_-77+6034del | |
| NM_001374262.1:c.-165+4914_-165+4920del | NP_001361191.1:n.-165+4914_-165+4920del | |
| NM_001374266.1:c.-77+4914_-77+4920del | NP_001361195.1:n.-77+4914_-77+4920del | |
| NM_005037.6:c.-3+6028_-3+6034del | NP_005028.4:n.-3+6028_-3+6034del | |
| NM_138711.4:c.-77+4914_-77+4920del | NP_619725.2:n.-77+4914_-77+4920del | |
| NM_138712.4:c.-77+6028_-77+6034del | NP_619726.2:n.-77+6028_-77+6034del | |
| NM_001330615.4:c.-83+4914_-83+4920del | NP_001317544.2:n.-83+4914_-83+4920del | |
| NM_001354666.3:c.-83+6373_-83+6379del | NP_001341595.2:n.-83+6373_-83+6379del | |
| NM_001354667.3:c.-9+4914_-9+4920del | NP_001341596.2:n.-9+4914_-9+4920del | |
| NM_001374261.3:c.-83+6028_-83+6034del | NP_001361190.2:n.-83+6028_-83+6034del | |
| NM_001374262.3:c.-171+4914_-171+4920del | NP_001361191.2:n.-171+4914_-171+4920del | |
| NM_005037.7:c.-9+6028_-9+6034del | NP_005028.5:n.-9+6028_-9+6034del | |
| NM_138711.6:c.-83+4914_-83+4920del MANE Select | NP_619725.3:n.-83+4914_-83+4920del | |
| NM_138712.5:c.-83+6028_-83+6034del | NP_619726.3:n.-83+6028_-83+6034del |