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
gnomAD v2:
3-37088852-G-GTTGTGGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37047363_37047370dup , CM000665.2:g.37047363_37047370dup | GRCh38 |
| NC_000003.11:g.37088854_37088861dup , CM000665.1:g.37088854_37088861dup | GRCh37 |
| NC_000003.10:g.37063858_37063865dup | NCBI36 |
| NG_007109.2:g.59014_59021dup , LRG_216:g.59014_59021dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-3123_1668-3116dup | ENSP00000416476.2:n.1668-3123_1668-3116du... | |
| ENST00000429117.6:c.1438-156_1438-149dup | ENSP00000407019.2:n.1438-156_1438-149dup | |
| ENST00000450420.6:c.1559-3123_1559-3116dup | ENSP00000393006.2:n.1559-3123_1559-3116du... | |
| ENST00000456676.7:c.1732-156_1732-149dup | ENSP00000416687.3:n.1732-156_1732-149dup | |
| ENST00000492474.6:c.1009-156_1009-149dup | ENSP00000518393.1:n.1009-156_1009-149dup | |
| ENST00000616768.6:c.1732-156_1732-149dup | ENSP00000480669.3:n.1732-156_1732-149dup | |
| ENST00000673673.2:c.1732-1154_1732-1147dup | ENSP00000500979.2:n.1732-1154_1732-1147du... | |
| ENST00000231790.8:c.1732-156_1732-149dup MANE Select | ENSP00000231790.3:n.1732-156_1732-149dup | |
| ENST00000413212.2:c.*650-156_*650-149dup | ENSP00000400844.2:n.*650-156_*650-149dup | |
| ENST00000432299.6:c.*1564-156_*1564-149dup | ENSP00000416783.1:n.*1564-156_*1564-149du... | |
| ENST00000441265.6:c.945-156_945-149dup | ENSP00000398392.2:n.945-156_945-149dup | |
| ENST00000447829.6:c.*843-156_*843-149dup | ENSP00000399329.2:n.*843-156_*843-149dup | |
| ENST00000539477.6:c.1009-156_1009-149dup | ENSP00000443665.1:n.1009-156_1009-149dup | |
| ENST00000616768.5:c.769-156_769-149dup | ENSP00000480669.2:n.769-156_769-149dup | |
| ENST00000673673.1:c.1685-1154_1685-1147dup | ||
| ENST00000673715.1:c.1732-156_1732-149dup | ENSP00000501301.1:n.1732-156_1732-149dup | |
| ENST00000673741.1:n.610_617dup | ||
| ENST00000673889.1:n.1114-156_1114-149dup | ||
| ENST00000673897.1:c.*1524-156_*1524-149dup | ENSP00000501109.1:n.*1524-156_*1524-149du... | |
| ENST00000673899.1:c.1000-156_1000-149dup | ENSP00000501030.1:n.1000-156_1000-149dup | |
| ENST00000673947.1:c.*1872-156_*1872-149dup | ENSP00000501304.1:n.*1872-156_*1872-149du... | |
| ENST00000673972.1:c.*1610-156_*1610-149dup | ENSP00000501281.1:n.*1610-156_*1610-149du... | |
| ENST00000673990.1:n.1623-156_1623-149dup | ||
| ENST00000674019.1:c.1009-156_1009-149dup | ENSP00000501081.1:n.1009-156_1009-149dup | |
| ENST00000674111.1:c.1668-156_1668-149dup | ENSP00000501162.1:n.1668-156_1668-149dup | |
| ENST00000674125.1:n.443-156_443-149dup | ||
| ENST00000231790.6:c.1732-156_1732-149dup | ENSP00000231790.2:n.1732-156_1732-149dup | |
| ENST00000413740.1:c.291-3123_291-3116dup | ENSP00000416476.1:n.291-3123_291-3116dup | |
| ENST00000435176.5:c.1438-156_1438-149dup | ENSP00000402564.1:n.1438-156_1438-149dup | |
| ENST00000450420.5:c.182-3123_182-3116dup | ENSP00000393006.1:n.182-3123_182-3116dup | |
| ENST00000455445.6:c.1009-156_1009-149dup | ENSP00000398272.2:n.1009-156_1009-149dup | |
| ENST00000456676.6:c.1707-156_1707-149dup | ||
| ENST00000458205.6:c.1009-156_1009-149dup | ENSP00000402667.2:n.1009-156_1009-149dup | |
| ENST00000536378.5:c.1009-156_1009-149dup | ENSP00000444286.2:n.1009-156_1009-149dup | |
| ENST00000539477.5:c.1009-156_1009-149dup | ENSP00000443665.1:n.1009-156_1009-149dup | |
| ENST00000616768.4:c.500-156_500-149dup | ||
| NM_000249.3:c.1732-156_1732-149dup , LRG_216t1:c.1732-156_1732-149dup | NP_000240.1:n.1732-156_1732-149dup | |
| NM_001167617.1:c.1438-156_1438-149dup | NP_001161089.1:n.1438-156_1438-149dup | |
| NM_001167618.1:c.1009-156_1009-149dup | NP_001161090.1:n.1009-156_1009-149dup | |
| NM_001167619.1:c.1009-156_1009-149dup | NP_001161091.1:n.1009-156_1009-149dup | |
| NM_001258271.1:c.1732-156_1732-149dup | NP_001245200.1:n.1732-156_1732-149dup | |
| NM_001258273.1:c.1009-156_1009-149dup | NP_001245202.1:n.1009-156_1009-149dup | |
| NM_001258274.1:c.1009-156_1009-149dup | NP_001245203.1:n.1009-156_1009-149dup | |
| XM_005265161.1:c.1525-156_1525-149dup | XP_005265218.1:n.1525-156_1525-149dup | |
| XM_005265163.1:c.1009-156_1009-149dup | XP_005265220.1:n.1009-156_1009-149dup | |
| XM_005265164.1:c.1009-156_1009-149dup | XP_005265221.1:n.1009-156_1009-149dup | |
| XM_005265166.1:c.709-156_709-149dup | XP_005265223.1:n.709-156_709-149dup | |
| XM_011533727.1:c.658-156_658-149dup | XP_011532029.1:n.658-156_658-149dup | |
| NM_001167617.2:c.1438-156_1438-149dup | NP_001161089.1:n.1438-156_1438-149dup | |
| NM_001167618.2:c.1009-156_1009-149dup | NP_001161090.1:n.1009-156_1009-149dup | |
| NM_001167619.2:c.1009-156_1009-149dup | NP_001161091.1:n.1009-156_1009-149dup | |
| NM_001258274.2:c.1009-156_1009-149dup | NP_001245203.1:n.1009-156_1009-149dup | |
| NM_001354615.1:c.1009-156_1009-149dup | NP_001341544.1:n.1009-156_1009-149dup | |
| NM_001354616.1:c.1009-156_1009-149dup | NP_001341545.1:n.1009-156_1009-149dup | |
| NM_001354617.1:c.1009-156_1009-149dup | NP_001341546.1:n.1009-156_1009-149dup | |
| NM_001354618.1:c.1009-156_1009-149dup | NP_001341547.1:n.1009-156_1009-149dup | |
| NM_001354619.1:c.1009-156_1009-149dup | NP_001341548.1:n.1009-156_1009-149dup | |
| NM_001354620.1:c.1438-156_1438-149dup | NP_001341549.1:n.1438-156_1438-149dup | |
| NM_001354621.1:c.709-156_709-149dup | NP_001341550.1:n.709-156_709-149dup | |
| NM_001354622.1:c.709-156_709-149dup | NP_001341551.1:n.709-156_709-149dup | |
| NM_001354623.1:c.709-156_709-149dup | NP_001341552.1:n.709-156_709-149dup | |
| NM_001354624.1:c.658-156_658-149dup | NP_001341553.1:n.658-156_658-149dup | |
| NM_001354625.1:c.658-156_658-149dup | NP_001341554.1:n.658-156_658-149dup | |
| NM_001354626.1:c.658-156_658-149dup | NP_001341555.1:n.658-156_658-149dup | |
| NM_001354627.1:c.658-156_658-149dup | NP_001341556.1:n.658-156_658-149dup | |
| NM_001354628.1:c.1732-156_1732-149dup | NP_001341557.1:n.1732-156_1732-149dup | |
| NM_001354629.1:c.1633-156_1633-149dup | NP_001341558.1:n.1633-156_1633-149dup | |
| NM_001354630.1:c.1732-1154_1732-1147dup | NP_001341559.1:n.1732-1154_1732-1147dup | |
| XM_005265161.2:c.1525-156_1525-149dup | XP_005265218.1:n.1525-156_1525-149dup | |
| XM_017006450.2:c.709-156_709-149dup | XP_016861939.1:n.709-156_709-149dup | |
| NM_000249.4:c.1732-156_1732-149dup MANE Select | NP_000240.1:n.1732-156_1732-149dup | |
| NM_001167617.3:c.1438-156_1438-149dup | NP_001161089.1:n.1438-156_1438-149dup | |
| NM_001167618.3:c.1009-156_1009-149dup | NP_001161090.1:n.1009-156_1009-149dup | |
| NM_001167619.3:c.1009-156_1009-149dup | NP_001161091.1:n.1009-156_1009-149dup | |
| NM_001258271.2:c.1732-156_1732-149dup | NP_001245200.1:n.1732-156_1732-149dup | |
| NM_001258273.2:c.1009-156_1009-149dup | NP_001245202.1:n.1009-156_1009-149dup | |
| NM_001258274.3:c.1009-156_1009-149dup | NP_001245203.1:n.1009-156_1009-149dup | |
| NM_001354615.2:c.1009-156_1009-149dup | NP_001341544.1:n.1009-156_1009-149dup | |
| NM_001354616.2:c.1009-156_1009-149dup | NP_001341545.1:n.1009-156_1009-149dup | |
| NM_001354617.2:c.1009-156_1009-149dup | NP_001341546.1:n.1009-156_1009-149dup | |
| NM_001354618.2:c.1009-156_1009-149dup | NP_001341547.1:n.1009-156_1009-149dup | |
| NM_001354619.2:c.1009-156_1009-149dup | NP_001341548.1:n.1009-156_1009-149dup | |
| NM_001354620.2:c.1438-156_1438-149dup | NP_001341549.1:n.1438-156_1438-149dup | |
| NM_001354621.2:c.709-156_709-149dup | NP_001341550.1:n.709-156_709-149dup | |
| NM_001354622.2:c.709-156_709-149dup | NP_001341551.1:n.709-156_709-149dup | |
| NM_001354623.2:c.709-156_709-149dup | NP_001341552.1:n.709-156_709-149dup | |
| NM_001354624.2:c.658-156_658-149dup | NP_001341553.1:n.658-156_658-149dup | |
| NM_001354625.2:c.658-156_658-149dup | NP_001341554.1:n.658-156_658-149dup | |
| NM_001354626.2:c.658-156_658-149dup | NP_001341555.1:n.658-156_658-149dup | |
| NM_001354627.2:c.658-156_658-149dup | NP_001341556.1:n.658-156_658-149dup | |
| NM_001354628.2:c.1732-156_1732-149dup | NP_001341557.1:n.1732-156_1732-149dup | |
| NM_001354629.2:c.1633-156_1633-149dup | NP_001341558.1:n.1633-156_1633-149dup | |
| NM_001354630.2:c.1732-1154_1732-1147dup | NP_001341559.1:n.1732-1154_1732-1147dup |