WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs2081445907
gnomAD v3:
3-37000796-C-CAAAAGCAAGACT
gnomAD v4:
3-37000796-C-CAAAAGCAAGACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37000796_37000797insAAAAGCAAGACT , CM000665.2:g.37000796_37000797insAAAAGCAAGACT | GRCh38 |
| NC_000003.11:g.37042287_37042288insAAAAGCAAGACT , CM000665.1:g.37042287_37042288insAAAAGCAAGACT | GRCh37 |
| NC_000003.10:g.37017291_37017292insAAAAGCAAGACT | NCBI36 |
| NG_007109.2:g.12447_12448insAAAAGCAAGACT , LRG_216:g.12447_12448insAAAAGCAAGACT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.208-159_208-158insAAAAGCAAGACT | ENSP00000416476.2:n.208-159_208-158insAAA... | |
| ENST00000429117.6:c.-82-159_-82-158insAAAAGCAAGACT | ENSP00000407019.2:n.-82-159_-82-158insAAA... | |
| ENST00000450420.6:c.208-159_208-158insAAAAGCAAGACT | ENSP00000393006.2:n.208-159_208-158insAAA... | |
| ENST00000456676.7:c.208-159_208-158insAAAAGCAAGACT | ENSP00000416687.3:n.208-159_208-158insAAA... | |
| ENST00000458009.6:c.208-159_208-158insAAAAGCAAGACT | ENSP00000411066.2:n.208-159_208-158insAAA... | |
| ENST00000492474.6:c.-516-159_-516-158insAAAAGCAAGACT | ENSP00000518393.1:n.-516-159_-516-158insA... | |
| ENST00000616768.6:c.208-159_208-158insAAAAGCAAGACT | ENSP00000480669.3:n.208-159_208-158insAAA... | |
| ENST00000673673.2:c.208-159_208-158insAAAAGCAAGACT | ENSP00000500979.2:n.208-159_208-158insAAA... | |
| ENST00000231790.8:c.208-159_208-158insAAAAGCAAGACT MANE Select | ENSP00000231790.3:n.208-159_208-158insAAA... | |
| ENST00000413212.2:c.-516-159_-516-158insAAAAGCAAGACT | ENSP00000400844.2:n.-516-159_-516-158insA... | |
| ENST00000432299.6:c.*288-159_*288-158insAAAAGCAAGACT | ENSP00000416783.1:n.*288-159_*288-158insA... | |
| ENST00000441265.6:c.-516-159_-516-158insAAAAGCAAGACT | ENSP00000398392.2:n.-516-159_-516-158insA... | |
| ENST00000442249.6:n.223-159_223-158insAAAAGCAAGACT | ||
| ENST00000447829.6:c.-82-159_-82-158insAAAAGCAAGACT | ENSP00000399329.2:n.-82-159_-82-158insAAA... | |
| ENST00000539477.6:c.-424-159_-424-158insAAAAGCAAGACT | ENSP00000443665.1:n.-424-159_-424-158insA... | |
| ENST00000673673.1:c.161-159_161-158insAAAAGCAAGACT | ||
| ENST00000673713.1:n.239-159_239-158insAAAAGCAAGACT | ||
| ENST00000673715.1:c.208-159_208-158insAAAAGCAAGACT | ENSP00000501301.1:n.208-159_208-158insAAA... | |
| ENST00000673897.1:c.117-159_117-158insAAAAGCAAGACT | ENSP00000501109.1:n.117-159_117-158insAAA... | |
| ENST00000673899.1:c.208-159_208-158insAAAAGCAAGACT | ENSP00000501030.1:n.208-159_208-158insAAA... | |
| ENST00000673947.1:c.*348-159_*348-158insAAAAGCAAGACT | ENSP00000501304.1:n.*348-159_*348-158insA... | |
| ENST00000673972.1:c.*86-159_*86-158insAAAAGCAAGACT | ENSP00000501281.1:n.*86-159_*86-158insAAA... | |
| ENST00000673990.1:n.193-159_193-158insAAAAGCAAGACT | ||
| ENST00000674019.1:c.-516-159_-516-158insAAAAGCAAGACT | ENSP00000501081.1:n.-516-159_-516-158insA... | |
| ENST00000674107.1:n.150-159_150-158insAAAAGCAAGACT | ||
| ENST00000674111.1:c.208-159_208-158insAAAAGCAAGACT | ENSP00000501162.1:n.208-159_208-158insAAA... | |
| ENST00000231790.6:c.208-159_208-158insAAAAGCAAGACT | ENSP00000231790.2:n.208-159_208-158insAAA... | |
| ENST00000429117.5:c.-82-159_-82-158insAAAAGCAAGACT | ENSP00000407019.1:n.-82-159_-82-158insAAA... | |
| ENST00000432299.5:c.*288-159_*288-158insAAAAGCAAGACT | ENSP00000416783.1:n.*288-159_*288-158insA... | |
| ENST00000435176.5:c.-82-159_-82-158insAAAAGCAAGACT | ENSP00000402564.1:n.-82-159_-82-158insAAA... | |
| ENST00000441265.5:c.-424-159_-424-158insAAAAGCAAGACT | ENSP00000398392.1:n.-424-159_-424-158insA... | |
| ENST00000442249.5:c.117-159_117-158insAAAAGCAAGACT | ENSP00000387511.1:n.117-159_117-158insAAA... | |
| ENST00000454028.5:c.*86-159_*86-158insAAAAGCAAGACT | ENSP00000392649.1:n.*86-159_*86-158insAAA... | |
| ENST00000455445.6:c.-516-159_-516-158insAAAAGCAAGACT | ENSP00000398272.2:n.-516-159_-516-158insA... | |
| ENST00000456676.6:c.183-159_183-158insAAAAGCAAGACT | ||
| ENST00000457004.5:c.*86-3605_*86-3604insAAAAGCAAGACT | ENSP00000407773.1:n.*86-3605_*86-3604insA... | |
| ENST00000458205.6:c.-516-159_-516-158insAAAAGCAAGACT | ENSP00000402667.2:n.-516-159_-516-158insA... | |
| ENST00000466900.5:n.135-159_135-158insAAAAGCAAGACT | ||
| ENST00000476172.5:n.330-159_330-158insAAAAGCAAGACT | ||
| ENST00000485889.1:n.212-159_212-158insAAAAGCAAGACT | ||
| ENST00000492474.5:n.231-159_231-158insAAAAGCAAGACT | ||
| ENST00000536378.5:c.-516-159_-516-158insAAAAGCAAGACT | ENSP00000444286.2:n.-516-159_-516-158insA... | |
| ENST00000539477.5:c.-424-159_-424-158insAAAAGCAAGACT | ENSP00000443665.1:n.-424-159_-424-158insA... | |
| NM_000249.3:c.208-159_208-158insAAAAGCAAGACT , LRG_216t1:c.208-159_208-158insAAAAGCAAGACT | NP_000240.1:n.208-159_208-158insAAAAGCAAG... | |
| NM_001167617.1:c.-82-159_-82-158insAAAAGCAAGACT | NP_001161089.1:n.-82-159_-82-158insAAAAGC... | |
| NM_001167618.1:c.-516-159_-516-158insAAAAGCAAGACT | NP_001161090.1:n.-516-159_-516-158insAAAA... | |
| NM_001167619.1:c.-424-159_-424-158insAAAAGCAAGACT | NP_001161091.1:n.-424-159_-424-158insAAAA... | |
| NM_001258271.1:c.208-159_208-158insAAAAGCAAGACT | NP_001245200.1:n.208-159_208-158insAAAAGC... | |
| NM_001258273.1:c.-516-159_-516-158insAAAAGCAAGACT | NP_001245202.1:n.-516-159_-516-158insAAAA... | |
| NM_001258274.1:c.-516-159_-516-158insAAAAGCAAGACT | NP_001245203.1:n.-516-159_-516-158insAAAA... | |
| XM_005265161.1:c.208-159_208-158insAAAAGCAAGACT | XP_005265218.1:n.208-159_208-158insAAAAGC... | |
| XM_005265163.1:c.-516-159_-516-158insAAAAGCAAGACT | XP_005265220.1:n.-516-159_-516-158insAAAA... | |
| XM_005265164.1:c.-516-159_-516-158insAAAAGCAAGACT | XP_005265221.1:n.-516-159_-516-158insAAAA... | |
| XM_005265166.1:c.-722-159_-722-158insAAAAGCAAGACT | XP_005265223.1:n.-722-159_-722-158insAAAA... | |
| XM_011533727.1:c.-619-159_-619-158insAAAAGCAAGACT | XP_011532029.1:n.-619-159_-619-158insAAAA... | |
| NM_001167617.2:c.-82-159_-82-158insAAAAGCAAGACT | NP_001161089.1:n.-82-159_-82-158insAAAAGC... | |
| NM_001167618.2:c.-516-159_-516-158insAAAAGCAAGACT | NP_001161090.1:n.-516-159_-516-158insAAAA... | |
| NM_001167619.2:c.-424-159_-424-158insAAAAGCAAGACT | NP_001161091.1:n.-424-159_-424-158insAAAA... | |
| NM_001258274.2:c.-516-159_-516-158insAAAAGCAAGACT | NP_001245203.1:n.-516-159_-516-158insAAAA... | |
| NM_001354615.1:c.-419-159_-419-158insAAAAGCAAGACT | NP_001341544.1:n.-419-159_-419-158insAAAA... | |
| NM_001354616.1:c.-424-159_-424-158insAAAAGCAAGACT | NP_001341545.1:n.-424-159_-424-158insAAAA... | |
| NM_001354617.1:c.-516-159_-516-158insAAAAGCAAGACT | NP_001341546.1:n.-516-159_-516-158insAAAA... | |
| NM_001354618.1:c.-516-159_-516-158insAAAAGCAAGACT | NP_001341547.1:n.-516-159_-516-158insAAAA... | |
| NM_001354619.1:c.-516-159_-516-158insAAAAGCAAGACT | NP_001341548.1:n.-516-159_-516-158insAAAA... | |
| NM_001354620.1:c.-82-159_-82-158insAAAAGCAAGACT | NP_001341549.1:n.-82-159_-82-158insAAAAGC... | |
| NM_001354621.1:c.-609-159_-609-158insAAAAGCAAGACT | NP_001341550.1:n.-609-159_-609-158insAAAA... | |
| NM_001354622.1:c.-722-159_-722-158insAAAAGCAAGACT | NP_001341551.1:n.-722-159_-722-158insAAAA... | |
| NM_001354623.1:c.-722-159_-722-158insAAAAGCAAGACT | NP_001341552.1:n.-722-159_-722-158insAAAA... | |
| NM_001354624.1:c.-619-159_-619-158insAAAAGCAAGACT | NP_001341553.1:n.-619-159_-619-158insAAAA... | |
| NM_001354625.1:c.-522-159_-522-158insAAAAGCAAGACT | NP_001341554.1:n.-522-159_-522-158insAAAA... | |
| NM_001354626.1:c.-619-159_-619-158insAAAAGCAAGACT | NP_001341555.1:n.-619-159_-619-158insAAAA... | |
| NM_001354627.1:c.-619-159_-619-158insAAAAGCAAGACT | NP_001341556.1:n.-619-159_-619-158insAAAA... | |
| NM_001354628.1:c.208-159_208-158insAAAAGCAAGACT | NP_001341557.1:n.208-159_208-158insAAAAGC... | |
| NM_001354629.1:c.208-3605_208-3604insAAAAGCAAGACT | NP_001341558.1:n.208-3605_208-3604insAAAA... | |
| NM_001354630.1:c.208-159_208-158insAAAAGCAAGACT | NP_001341559.1:n.208-159_208-158insAAAAGC... | |
| XM_005265161.2:c.208-159_208-158insAAAAGCAAGACT | XP_005265218.1:n.208-159_208-158insAAAAGC... | |
| XM_017006450.2:c.-609-159_-609-158insAAAAGCAAGACT | XP_016861939.1:n.-609-159_-609-158insAAAA... | |
| NM_000249.4:c.208-159_208-158insAAAAGCAAGACT MANE Select | NP_000240.1:n.208-159_208-158insAAAAGCAAG... | |
| NM_001167617.3:c.-82-159_-82-158insAAAAGCAAGACT | NP_001161089.1:n.-82-159_-82-158insAAAAGC... | |
| NM_001167618.3:c.-516-159_-516-158insAAAAGCAAGACT | NP_001161090.1:n.-516-159_-516-158insAAAA... | |
| NM_001167619.3:c.-424-159_-424-158insAAAAGCAAGACT | NP_001161091.1:n.-424-159_-424-158insAAAA... | |
| NM_001258271.2:c.208-159_208-158insAAAAGCAAGACT | NP_001245200.1:n.208-159_208-158insAAAAGC... | |
| NM_001258273.2:c.-516-159_-516-158insAAAAGCAAGACT | NP_001245202.1:n.-516-159_-516-158insAAAA... | |
| NM_001258274.3:c.-516-159_-516-158insAAAAGCAAGACT | NP_001245203.1:n.-516-159_-516-158insAAAA... | |
| NM_001354615.2:c.-419-159_-419-158insAAAAGCAAGACT | NP_001341544.1:n.-419-159_-419-158insAAAA... | |
| NM_001354616.2:c.-424-159_-424-158insAAAAGCAAGACT | NP_001341545.1:n.-424-159_-424-158insAAAA... | |
| NM_001354617.2:c.-516-159_-516-158insAAAAGCAAGACT | NP_001341546.1:n.-516-159_-516-158insAAAA... | |
| NM_001354618.2:c.-516-159_-516-158insAAAAGCAAGACT | NP_001341547.1:n.-516-159_-516-158insAAAA... | |
| NM_001354619.2:c.-516-159_-516-158insAAAAGCAAGACT | NP_001341548.1:n.-516-159_-516-158insAAAA... | |
| NM_001354620.2:c.-82-159_-82-158insAAAAGCAAGACT | NP_001341549.1:n.-82-159_-82-158insAAAAGC... | |
| NM_001354621.2:c.-609-159_-609-158insAAAAGCAAGACT | NP_001341550.1:n.-609-159_-609-158insAAAA... | |
| NM_001354622.2:c.-722-159_-722-158insAAAAGCAAGACT | NP_001341551.1:n.-722-159_-722-158insAAAA... | |
| NM_001354623.2:c.-722-159_-722-158insAAAAGCAAGACT | NP_001341552.1:n.-722-159_-722-158insAAAA... | |
| NM_001354624.2:c.-619-159_-619-158insAAAAGCAAGACT | NP_001341553.1:n.-619-159_-619-158insAAAA... | |
| NM_001354625.2:c.-522-159_-522-158insAAAAGCAAGACT | NP_001341554.1:n.-522-159_-522-158insAAAA... | |
| NM_001354626.2:c.-619-159_-619-158insAAAAGCAAGACT | NP_001341555.1:n.-619-159_-619-158insAAAA... | |
| NM_001354627.2:c.-619-159_-619-158insAAAAGCAAGACT | NP_001341556.1:n.-619-159_-619-158insAAAA... | |
| NM_001354628.2:c.208-159_208-158insAAAAGCAAGACT | NP_001341557.1:n.208-159_208-158insAAAAGC... | |
| NM_001354629.2:c.208-3605_208-3604insAAAAGCAAGACT | NP_001341558.1:n.208-3605_208-3604insAAAA... | |
| NM_001354630.2:c.208-159_208-158insAAAAGCAAGACT | NP_001341559.1:n.208-159_208-158insAAAAGC... |