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:
rs1261487862
gnomAD v2:
9-134397370-AAG-A
gnomAD v3:
9-131521983-AAG-A
gnomAD v4:
9-131521983-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521991_131521992del , CM000671.2:g.131521991_131521992del | GRCh38 |
| NC_000009.11:g.134397378_134397379del , CM000671.1:g.134397378_134397379del | GRCh37 |
| NC_000009.10:g.133387199_133387200del | NCBI36 |
| NG_008896.1:g.24090_24091del | |
| NG_008896.2:g.24090_24091del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1664-56_1664-55del | ENSP00000343034.7:n.1664-56_1664-55del | |
| ENST00000404875.7:n.2366-56_2366-55del | ||
| ENST00000423007.6:c.1883-56_1883-55del | ENSP00000404119.2:n.1883-56_1883-55del | |
| ENST00000677295.2:c.*2170-56_*2170-55del | ENSP00000504346.2:n.*2170-56_*2170-55del | |
| ENST00000678264.2:c.*2009-56_*2009-55del | ENSP00000503157.2:n.*2009-56_*2009-55del | |
| ENST00000682070.1:n.2291-211_2291-210del | ||
| ENST00000682813.1:n.2230-56_2230-55del | ||
| ENST00000683392.1:n.4573-211_4573-210del | ||
| ENST00000683712.1:n.2231-56_2231-55del | ||
| ENST00000683900.1:n.3726-56_3726-55del | ||
| ENST00000684062.1:n.2492-56_2492-55del | ||
| ENST00000684579.1:n.3672-56_3672-55del | ||
| ENST00000684679.1:n.1053-56_1053-55del | ||
| ENST00000341012.12:c.1664-56_1664-55del | ENSP00000343034.7:n.1664-56_1664-55del | |
| ENST00000372220.5:c.695-56_695-55del | ENSP00000361294.5:n.695-56_695-55del | |
| ENST00000372228.9:c.1892-56_1892-55del | ENSP00000361302.3:n.1892-56_1892-55del | |
| ENST00000402686.8:c.1826-56_1826-55del MANE Select | ENSP00000385797.4:n.1826-56_1826-55del | |
| ENST00000676640.1:c.1826-56_1826-55del | ENSP00000503281.1:n.1826-56_1826-55del | |
| ENST00000676803.1:c.887-56_887-55del | ENSP00000503093.1:n.887-56_887-55del | |
| ENST00000676835.1:c.*1041-56_*1041-55del | ENSP00000502911.1:n.*1041-56_*1041-55del | |
| ENST00000677029.1:c.1370-56_1370-55del | ENSP00000502936.1:n.1370-56_1370-55del | |
| ENST00000677099.1:c.*1536-56_*1536-55del | ENSP00000504553.1:n.*1536-56_*1536-55del | |
| ENST00000677216.1:c.1475-56_1475-55del | ENSP00000503772.1:n.1475-56_1475-55del | |
| ENST00000677221.1:n.851-56_851-55del | ||
| ENST00000677295.1:c.*1203-211_*1203-210del | ENSP00000504346.1:n.*1203-211_*1203-210de... | |
| ENST00000677444.1:c.1771-56_1771-55del | ||
| ENST00000677586.1:n.1193-56_1193-55del | ||
| ENST00000677626.1:c.1475-56_1475-55del | ENSP00000503552.1:n.1475-56_1475-55del | |
| ENST00000677853.1:c.*834-56_*834-55del | ENSP00000503488.1:n.*834-56_*834-55del | |
| ENST00000678202.1:n.985-56_985-55del | ||
| ENST00000678264.1:c.*1203-56_*1203-55del | ENSP00000503157.1:n.*1203-56_*1203-55del | |
| ENST00000678303.1:c.1736-56_1736-55del | ENSP00000503696.1:n.1736-56_1736-55del | |
| ENST00000678366.1:c.*2075-56_*2075-55del | ENSP00000504353.1:n.*2075-56_*2075-55del | |
| ENST00000678546.1:c.*1771-56_*1771-55del | ENSP00000503062.1:n.*1771-56_*1771-55del | |
| ENST00000678548.1:c.*1909_*1910del | ENSP00000503934.1:n.*1909_*1910del | |
| ENST00000678626.1:n.1662-56_1662-55del | ||
| ENST00000678739.1:c.*2147-211_*2147-210del | ENSP00000503806.1:n.*2147-211_*2147-210de... | |
| ENST00000678833.1:c.*1578-56_*1578-55del | ENSP00000503893.1:n.*1578-56_*1578-55del | |
| ENST00000679023.1:c.1664-56_1664-55del | ENSP00000503718.1:n.1664-56_1664-55del | |
| ENST00000679076.1:c.1445-56_1445-55del | ||
| ENST00000679111.1:c.*582-56_*582-55del | ENSP00000504257.1:n.*582-56_*582-55del | |
| ENST00000679189.1:c.1475-56_1475-55del | ENSP00000503356.1:n.1475-56_1475-55del | |
| ENST00000341012.11:c.1664-56_1664-55del | ENSP00000343034.7:n.1664-56_1664-55del | |
| ENST00000372220.4:c.689-56_689-55del | ENSP00000361294.4:n.689-56_689-55del | |
| ENST00000372228.7:c.1892-56_1892-55del | ENSP00000361302.3:n.1892-56_1892-55del | |
| ENST00000402686.7:c.1826-56_1826-55del | ENSP00000385797.3:n.1826-56_1826-55del | |
| ENST00000404875.6:c.1475-56_1475-55del | ENSP00000384531.2:n.1475-56_1475-55del | |
| ENST00000423007.5:c.1826-56_1826-55del | ENSP00000404119.1:n.1826-56_1826-55del | |
| ENST00000485278.5:n.2376-56_2376-55del | ||
| ENST00000494883.1:n.369-56_369-55del | ||
| NM_001077365.1:c.1826-56_1826-55del | NP_001070833.1:n.1826-56_1826-55del | |
| NM_001077366.1:c.1664-56_1664-55del | NP_001070834.1:n.1664-56_1664-55del | |
| NM_001136113.1:c.1826-56_1826-55del | NP_001129585.1:n.1826-56_1826-55del | |
| NM_001136114.1:c.1475-56_1475-55del | NP_001129586.1:n.1475-56_1475-55del | |
| NM_007171.3:c.1892-56_1892-55del | NP_009102.3:n.1892-56_1892-55del | |
| XM_005272156.1:c.1892-56_1892-55del | XP_005272213.1:n.1892-56_1892-55del | |
| XM_005272158.1:c.1730-56_1730-55del | XP_005272215.1:n.1730-56_1730-55del | |
| XM_005272159.1:c.1541-56_1541-55del | XP_005272216.1:n.1541-56_1541-55del | |
| XM_005272162.1:c.695-56_695-55del | XP_005272219.1:n.695-56_695-55del | |
| XM_006716932.1:c.1541-56_1541-55del | XP_006716995.1:n.1541-56_1541-55del | |
| XM_011518140.1:c.1745-56_1745-55del | XP_011516442.1:n.1745-56_1745-55del | |
| XM_011518141.1:c.1679-56_1679-55del | XP_011516443.1:n.1679-56_1679-55del | |
| XM_011518142.1:c.1583-56_1583-55del | XP_011516444.1:n.1583-56_1583-55del | |
| XM_011518143.1:c.1577-56_1577-55del | XP_011516445.1:n.1577-56_1577-55del | |
| XM_011518145.1:c.1436-56_1436-55del | XP_011516447.1:n.1436-56_1436-55del | |
| XM_011518147.1:c.764-56_764-55del | XP_011516449.1:n.764-56_764-55del | |
| XR_929703.1:n.2068-56_2068-55del | ||
| NM_001353193.1:c.1892-56_1892-55del | NP_001340122.1:n.1892-56_1892-55del | |
| NM_001353194.1:c.1664-56_1664-55del | NP_001340123.1:n.1664-56_1664-55del | |
| NM_001353195.1:c.1475-56_1475-55del | NP_001340124.1:n.1475-56_1475-55del | |
| NM_001353196.1:c.1736-56_1736-55del | NP_001340125.1:n.1736-56_1736-55del | |
| NM_001353197.1:c.1730-56_1730-55del | NP_001340126.1:n.1730-56_1730-55del | |
| NM_001353198.1:c.1730-56_1730-55del | NP_001340127.1:n.1730-56_1730-55del | |
| NM_001353199.1:c.1541-56_1541-55del | NP_001340128.1:n.1541-56_1541-55del | |
| NM_001353200.1:c.1370-56_1370-55del | NP_001340129.1:n.1370-56_1370-55del | |
| NR_148391.1:n.1876-56_1876-55del | ||
| NR_148392.1:n.2094-56_2094-55del | ||
| NR_148393.1:n.2015-56_2015-55del | ||
| NR_148394.1:n.1769-56_1769-55del | ||
| NR_148395.1:n.2167-56_2167-55del | ||
| NR_148396.1:n.1801-56_1801-55del | ||
| NR_148397.1:n.1926-56_1926-55del | ||
| NR_148398.1:n.1881-56_1881-55del | ||
| NR_148399.1:n.2407-56_2407-55del | ||
| NR_148400.1:n.2006-56_2006-55del | ||
| XM_005272162.3:c.695-56_695-55del | XP_005272219.1:n.695-56_695-55del | |
| XM_006716932.2:c.1541-56_1541-55del | XP_006716995.1:n.1541-56_1541-55del | |
| XM_011518140.2:c.1745-56_1745-55del | XP_011516442.1:n.1745-56_1745-55del | |
| XM_011518141.2:c.1679-56_1679-55del | XP_011516443.1:n.1679-56_1679-55del | |
| XM_011518142.2:c.1583-56_1583-55del | XP_011516444.1:n.1583-56_1583-55del | |
| XM_011518143.2:c.1577-56_1577-55del | XP_011516445.1:n.1577-56_1577-55del | |
| XM_011518145.2:c.1436-56_1436-55del | XP_011516447.1:n.1436-56_1436-55del | |
| XM_017014205.2:c.695-56_695-55del | XP_016869694.1:n.695-56_695-55del | |
| XM_024447380.1:c.695-56_695-55del | XP_024303148.1:n.695-56_695-55del | |
| XM_024447381.1:c.1001-56_1001-55del | XP_024303149.1:n.1001-56_1001-55del | |
| XM_024447382.1:c.695-56_695-55del | XP_024303150.1:n.695-56_695-55del | |
| XR_001746160.2:n.1996-56_1996-55del | ||
| XR_001746162.2:n.2201-56_2201-55del | ||
| XR_001746164.1:n.1918-56_1918-55del | ||
| XR_001746166.2:n.2213-56_2213-55del | ||
| NM_001077365.2:c.1826-56_1826-55del MANE Select | NP_001070833.1:n.1826-56_1826-55del | |
| NM_001077366.2:c.1664-56_1664-55del | NP_001070834.1:n.1664-56_1664-55del | |
| NM_001136113.2:c.1826-56_1826-55del | NP_001129585.1:n.1826-56_1826-55del | |
| NM_001136114.2:c.1475-56_1475-55del | NP_001129586.1:n.1475-56_1475-55del | |
| NM_001353193.2:c.1892-56_1892-55del | NP_001340122.2:n.1892-56_1892-55del | |
| NM_001353194.2:c.1664-56_1664-55del | NP_001340123.1:n.1664-56_1664-55del | |
| NM_001353195.2:c.1475-56_1475-55del | NP_001340124.1:n.1475-56_1475-55del | |
| NM_001353196.2:c.1736-56_1736-55del | NP_001340125.1:n.1736-56_1736-55del | |
| NM_001353197.2:c.1730-56_1730-55del | NP_001340126.2:n.1730-56_1730-55del | |
| NM_001353198.2:c.1730-56_1730-55del | NP_001340127.2:n.1730-56_1730-55del | |
| NM_001353199.2:c.1541-56_1541-55del | NP_001340128.2:n.1541-56_1541-55del | |
| NM_001353200.2:c.1370-56_1370-55del | NP_001340129.1:n.1370-56_1370-55del | |
| NM_001374689.1:c.1814-56_1814-55del | NP_001361618.1:n.1814-56_1814-55del | |
| NM_001374690.1:c.1607-56_1607-55del | NP_001361619.1:n.1607-56_1607-55del | |
| NM_001374691.1:c.1475-56_1475-55del | NP_001361620.1:n.1475-56_1475-55del | |
| NM_001374692.1:c.1475-56_1475-55del | NP_001361621.1:n.1475-56_1475-55del | |
| NM_001374693.1:c.1475-56_1475-55del | NP_001361622.1:n.1475-56_1475-55del | |
| NM_001374695.1:c.1436-56_1436-55del | NP_001361624.1:n.1436-56_1436-55del | |
| NM_007171.4:c.1892-56_1892-55del | NP_009102.4:n.1892-56_1892-55del | |
| NR_148391.2:n.1860-56_1860-55del | ||
| NR_148392.2:n.2078-56_2078-55del | ||
| NR_148393.2:n.1999-56_1999-55del | ||
| NR_148394.2:n.1753-56_1753-55del | ||
| NR_148395.2:n.2151-56_2151-55del | ||
| NR_148396.2:n.1785-56_1785-55del | ||
| NR_148397.2:n.1910-56_1910-55del | ||
| NR_148398.2:n.1865-56_1865-55del | ||
| NR_148399.2:n.2391-56_2391-55del | ||
| NR_148400.2:n.1990-56_1990-55del |