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:
90190
ClinVar RCV Id:
RCV002362708
dbSNP Id:
rs63750081
CIViC:
CA010006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993584del , CM000665.2:g.36993584del | GRCh38 |
| NC_000003.11:g.37035075del , CM000665.1:g.37035075del | GRCh37 |
| NC_000003.10:g.37010079del | NCBI36 |
| NG_007109.2:g.5235del , LRG_216:g.5235del | |
| NG_008418.1:g.4721del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.37del | ENSP00000416476.2:p.Glu13ArgfsTer4 | |
| ENST00000450420.6:c.37del | ENSP00000393006.2:p.Glu13ArgfsTer4 | |
| ENST00000456676.7:c.37del | ENSP00000416687.3:p.Glu13ArgfsTer4 | |
| ENST00000458009.6:c.37del | ENSP00000411066.2:p.Glu13ArgfsTer4 | |
| ENST00000616768.6:c.37del | ENSP00000480669.3:p.Glu13ArgfsTer4 | |
| ENST00000673673.2:c.37del | ENSP00000500979.2:p.Glu13ArgfsTer4 | |
| ENST00000231790.8:c.37del MANE Select | ENSP00000231790.3:p.Glu13ArgfsTer4 | |
| ENST00000432299.6:c.37del | ENSP00000416783.1:p.Glu13ArgfsTer4 | |
| ENST00000442249.6:n.52del | ||
| ENST00000673713.1:n.68del | ||
| ENST00000673715.1:c.37del | ENSP00000501301.1:p.Glu13ArgfsTer4 | |
| ENST00000673897.1:c.37del | ENSP00000501109.1:p.Glu13ArgfsTer4 | |
| ENST00000673899.1:c.37del | ENSP00000501030.1:p.Glu13ArgfsTer4 | |
| ENST00000673947.1:c.37del | ENSP00000501304.1:p.Glu13ArgfsTer4 | |
| ENST00000673972.1:c.37del | ENSP00000501281.1:p.Glu13ArgfsTer4 | |
| ENST00000674111.1:c.37del | ENSP00000501162.1:p.Glu13ArgfsTer4 | |
| ENST00000231790.6:c.37del | ENSP00000231790.2:p.Glu13ArgfsTer4 | |
| ENST00000432299.5:c.37del | ENSP00000416783.1:p.Glu13ArgfsTer4 | |
| ENST00000442249.5:c.37del | ENSP00000387511.1:p.Glu13ArgfsTer4 | |
| ENST00000454028.5:c.37del | ENSP00000392649.1:p.Glu13ArgfsTer4 | |
| ENST00000456676.6:c.12del | ||
| ENST00000457004.5:c.37del | ENSP00000407773.1:p.Glu13ArgfsTer4 | |
| ENST00000536378.5:c.-596del | ENSP00000444286.2:n.-596del | |
| NM_000249.3:c.37del , LRG_216t1:c.37del | NP_000240.1:p.Glu13ArgfsTer4 | |
| NM_001258271.1:c.37del | NP_001245200.1:p.Glu13ArgfsTer4 | |
| NM_001258273.1:c.-596del | NP_001245202.1:n.-596del | |
| XM_005265161.1:c.37del | XP_005265218.1:p.Glu13ArgfsTer4 | |
| XM_005265164.1:c.-682del | XP_005265221.1:n.-682del | |
| NM_001167617.2:c.-480del | NP_001161089.1:n.-480del | |
| NM_001167618.2:c.-909del | NP_001161090.1:n.-909del | |
| NM_001167619.2:c.-822del | NP_001161091.1:n.-822del | |
| NM_001258274.2:c.-1059del | NP_001245203.1:n.-1059del | |
| NM_001354615.1:c.-590del | NP_001341544.1:n.-590del | |
| NM_001354616.1:c.-590del | NP_001341545.1:n.-590del | |
| NM_001354617.1:c.-682del | NP_001341546.1:n.-682del | |
| NM_001354618.1:c.-914del | NP_001341547.1:n.-914del | |
| NM_001354619.1:c.-1038del | NP_001341548.1:n.-1038del | |
| NM_001354620.1:c.-248del | NP_001341549.1:n.-248del | |
| NM_001354621.1:c.-1007del | NP_001341550.1:n.-1007del | |
| NM_001354622.1:c.-1120del | NP_001341551.1:n.-1120del | |
| NM_001354623.1:c.-1029del | NP_001341552.1:n.-1029del | |
| NM_001354624.1:c.-790del | NP_001341553.1:n.-790del | |
| NM_001354625.1:c.-688del | NP_001341554.1:n.-688del | |
| NM_001354626.1:c.-785del | NP_001341555.1:n.-785del | |
| NM_001354627.1:c.-1017del | NP_001341556.1:n.-1017del | |
| NM_001354628.1:c.37del | NP_001341557.1:p.Glu13ArgfsTer4 | |
| NM_001354629.1:c.37del | NP_001341558.1:p.Glu13ArgfsTer4 | |
| NM_001354630.1:c.37del | NP_001341559.1:p.Glu13ArgfsTer4 | |
| XM_005265161.2:c.37del | XP_005265218.1:p.Glu13ArgfsTer4 | |
| XM_017006450.2:c.-775del | XP_016861939.1:n.-775del | |
| NM_000249.4:c.37del MANE Select | NP_000240.1:p.Glu13ArgfsTer4 | |
| NM_001167617.3:c.-480del | NP_001161089.1:n.-480del | |
| NM_001167618.3:c.-909del | NP_001161090.1:n.-909del | |
| NM_001167619.3:c.-822del | NP_001161091.1:n.-822del | |
| NM_001258271.2:c.37del | NP_001245200.1:p.Glu13ArgfsTer4 | |
| NM_001258273.2:c.-596del | NP_001245202.1:n.-596del | |
| NM_001258274.3:c.-1059del | NP_001245203.1:n.-1059del | |
| NM_001354615.2:c.-590del | NP_001341544.1:n.-590del | |
| NM_001354616.2:c.-590del | NP_001341545.1:n.-590del | |
| NM_001354617.2:c.-682del | NP_001341546.1:n.-682del | |
| NM_001354618.2:c.-914del | NP_001341547.1:n.-914del | |
| NM_001354619.2:c.-1038del | NP_001341548.1:n.-1038del | |
| NM_001354620.2:c.-248del | NP_001341549.1:n.-248del | |
| NM_001354621.2:c.-1007del | NP_001341550.1:n.-1007del | |
| NM_001354622.2:c.-1120del | NP_001341551.1:n.-1120del | |
| NM_001354623.2:c.-1029del | NP_001341552.1:n.-1029del | |
| NM_001354624.2:c.-790del | NP_001341553.1:n.-790del | |
| NM_001354625.2:c.-688del | NP_001341554.1:n.-688del | |
| NM_001354626.2:c.-785del | NP_001341555.1:n.-785del | |
| NM_001354627.2:c.-1017del | NP_001341556.1:n.-1017del | |
| NM_001354628.2:c.37del | NP_001341557.1:p.Glu13ArgfsTer4 | |
| NM_001354629.2:c.37del | NP_001341558.1:p.Glu13ArgfsTer4 | |
| NM_001354630.2:c.37del | NP_001341559.1:p.Glu13ArgfsTer4 |