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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37048909_37048910delinsG , CM000665.2:g.37048909_37048910delinsG | GRCh38 |
| NC_000003.11:g.37090400_37090401delinsG , CM000665.1:g.37090400_37090401delinsG | GRCh37 |
| NC_000003.10:g.37065404_37065405delinsG | NCBI36 |
| NG_007109.2:g.60560_60561delinsG , LRG_216:g.60560_60561delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-1577_1668-1576delinsG | ENSP00000416476.2:n.1668-1577_1668-1576de... | |
| ENST00000429117.6:c.1701_1702delinsG | ENSP00000407019.2:p.Asn567LysfsTer? | |
| ENST00000450420.6:c.1559-1577_1559-1576delinsG | ENSP00000393006.2:n.1559-1577_1559-1576de... | |
| ENST00000456676.7:c.1896+1226_1896+1227delinsG | ENSP00000416687.3:n.1896+1226_1896+1227de... | |
| ENST00000492474.6:c.1272_1273delinsG | ENSP00000518393.1:p.Asn424LysfsTer? | |
| ENST00000616768.6:c.1902_1903delinsG | ENSP00000480669.3:p.Asn634LysfsTer? | |
| ENST00000673673.2:c.1830_1831delinsG | ENSP00000500979.2:p.Asn610LysfsTer? | |
| ENST00000231790.8:c.1995_1996delinsG MANE Select | ENSP00000231790.3:p.Asn665LysfsTer? | |
| ENST00000413212.2:c.*913_*914delinsG | ENSP00000400844.2:n.*913_*914delinsG | |
| ENST00000432299.6:c.*1827_*1828delinsG | ENSP00000416783.1:n.*1827_*1828delinsG | |
| ENST00000447829.6:c.*1106_*1107delinsG | ENSP00000399329.2:n.*1106_*1107delinsG | |
| ENST00000539477.6:c.1272_1273delinsG | ENSP00000443665.1:p.Asn424LysfsTer? | |
| ENST00000616768.5:c.939_940delinsG | ENSP00000480669.2:p.Asn313LysfsTer? | |
| ENST00000673673.1:c.1783_1784delinsG | ||
| ENST00000673741.1:n.1029_1030delinsG | ||
| ENST00000673889.1:n.1377_1378delinsG | ||
| ENST00000673897.1:c.*1787_*1788delinsG | ENSP00000501109.1:n.*1787_*1788delinsG | |
| ENST00000673899.1:c.1263_1264delinsG | ENSP00000501030.1:p.Asn421LysfsTer? | |
| ENST00000673947.1:c.*2135_*2136delinsG | ENSP00000501304.1:n.*2135_*2136delinsG | |
| ENST00000673972.1:c.*1873_*1874delinsG | ENSP00000501281.1:n.*1873_*1874delinsG | |
| ENST00000674019.1:c.1272_1273delinsG | ENSP00000501081.1:p.Asn424LysfsTer? | |
| ENST00000674111.1:c.*224_*225delinsG | ENSP00000501162.1:n.*224_*225delinsG | |
| ENST00000674125.1:n.706_707delinsG | ||
| ENST00000231790.6:c.1995_1996delinsG | ENSP00000231790.2:p.Asn665LysfsTer? | |
| ENST00000413740.1:c.291-1577_291-1576delinsG | ENSP00000416476.1:n.291-1577_291-1576deli... | |
| ENST00000435176.5:c.1701_1702delinsG | ENSP00000402564.1:p.Asn567LysfsTer? | |
| ENST00000450420.5:c.182-1577_182-1576delinsG | ENSP00000393006.1:n.182-1577_182-1576deli... | |
| ENST00000455445.6:c.1272_1273delinsG | ENSP00000398272.2:p.Asn424LysfsTer? | |
| ENST00000456676.6:c.1871+1226_1871+1227delinsG | ||
| ENST00000458205.6:c.1272_1273delinsG | ENSP00000402667.2:p.Asn424LysfsTer? | |
| ENST00000536378.5:c.1272_1273delinsG | ENSP00000444286.2:p.Asn424LysfsTer? | |
| ENST00000539477.5:c.1272_1273delinsG | ENSP00000443665.1:p.Asn424LysfsTer? | |
| NM_000249.3:c.1995_1996delinsG , LRG_216t1:c.1995_1996delinsG | NP_000240.1:p.Asn665LysfsTer? | |
| NM_001167617.1:c.1701_1702delinsG | NP_001161089.1:p.Asn567LysfsTer? | |
| NM_001167618.1:c.1272_1273delinsG | NP_001161090.1:p.Asn424LysfsTer? | |
| NM_001167619.1:c.1272_1273delinsG | NP_001161091.1:p.Asn424LysfsTer? | |
| NM_001258271.1:c.1896+1226_1896+1227delinsG | NP_001245200.1:n.1896+1226_1896+1227delin... | |
| NM_001258273.1:c.1272_1273delinsG | NP_001245202.1:p.Asn424LysfsTer? | |
| NM_001258274.1:c.1272_1273delinsG | NP_001245203.1:p.Asn424LysfsTer? | |
| XM_005265161.1:c.1788_1789delinsG | XP_005265218.1:p.Asn596LysfsTer? | |
| XM_005265163.1:c.1272_1273delinsG | XP_005265220.1:p.Asn424LysfsTer? | |
| XM_005265164.1:c.1272_1273delinsG | XP_005265221.1:p.Asn424LysfsTer? | |
| XM_005265166.1:c.972_973delinsG | XP_005265223.1:p.Asn324LysfsTer? | |
| XM_011533727.1:c.921_922delinsG | XP_011532029.1:p.Asn307LysfsTer? | |
| NM_001167617.2:c.1701_1702delinsG | NP_001161089.1:p.Asn567LysfsTer? | |
| NM_001167618.2:c.1272_1273delinsG | NP_001161090.1:p.Asn424LysfsTer? | |
| NM_001167619.2:c.1272_1273delinsG | NP_001161091.1:p.Asn424LysfsTer? | |
| NM_001258274.2:c.1272_1273delinsG | NP_001245203.1:p.Asn424LysfsTer? | |
| NM_001354615.1:c.1272_1273delinsG | NP_001341544.1:p.Asn424LysfsTer? | |
| NM_001354616.1:c.1272_1273delinsG | NP_001341545.1:p.Asn424LysfsTer? | |
| NM_001354617.1:c.1272_1273delinsG | NP_001341546.1:p.Asn424LysfsTer? | |
| NM_001354618.1:c.1272_1273delinsG | NP_001341547.1:p.Asn424LysfsTer? | |
| NM_001354619.1:c.1272_1273delinsG | NP_001341548.1:p.Asn424LysfsTer? | |
| NM_001354620.1:c.1701_1702delinsG | NP_001341549.1:p.Asn567LysfsTer? | |
| NM_001354621.1:c.972_973delinsG | NP_001341550.1:p.Asn324LysfsTer? | |
| NM_001354622.1:c.972_973delinsG | NP_001341551.1:p.Asn324LysfsTer? | |
| NM_001354623.1:c.972_973delinsG | NP_001341552.1:p.Asn324LysfsTer? | |
| NM_001354624.1:c.921_922delinsG | NP_001341553.1:p.Asn307LysfsTer? | |
| NM_001354625.1:c.921_922delinsG | NP_001341554.1:p.Asn307LysfsTer? | |
| NM_001354626.1:c.921_922delinsG | NP_001341555.1:p.Asn307LysfsTer? | |
| NM_001354627.1:c.921_922delinsG | NP_001341556.1:p.Asn307LysfsTer? | |
| NM_001354628.1:c.1902_1903delinsG | NP_001341557.1:p.Asn634LysfsTer? | |
| NM_001354629.1:c.1896_1897delinsG | NP_001341558.1:p.Asn632LysfsTer? | |
| NM_001354630.1:c.1830_1831delinsG | NP_001341559.1:p.Asn610LysfsTer? | |
| XM_005265161.2:c.1788_1789delinsG | XP_005265218.1:p.Asn596LysfsTer? | |
| XM_017006450.2:c.972_973delinsG | XP_016861939.1:p.Asn324LysfsTer? | |
| NM_000249.4:c.1995_1996delinsG MANE Select | NP_000240.1:p.Asn665LysfsTer? | |
| NM_001167617.3:c.1701_1702delinsG | NP_001161089.1:p.Asn567LysfsTer? | |
| NM_001167618.3:c.1272_1273delinsG | NP_001161090.1:p.Asn424LysfsTer? | |
| NM_001167619.3:c.1272_1273delinsG | NP_001161091.1:p.Asn424LysfsTer? | |
| NM_001258271.2:c.1896+1226_1896+1227delinsG | NP_001245200.1:n.1896+1226_1896+1227delin... | |
| NM_001258273.2:c.1272_1273delinsG | NP_001245202.1:p.Asn424LysfsTer? | |
| NM_001258274.3:c.1272_1273delinsG | NP_001245203.1:p.Asn424LysfsTer? | |
| NM_001354615.2:c.1272_1273delinsG | NP_001341544.1:p.Asn424LysfsTer? | |
| NM_001354616.2:c.1272_1273delinsG | NP_001341545.1:p.Asn424LysfsTer? | |
| NM_001354617.2:c.1272_1273delinsG | NP_001341546.1:p.Asn424LysfsTer? | |
| NM_001354618.2:c.1272_1273delinsG | NP_001341547.1:p.Asn424LysfsTer? | |
| NM_001354619.2:c.1272_1273delinsG | NP_001341548.1:p.Asn424LysfsTer? | |
| NM_001354620.2:c.1701_1702delinsG | NP_001341549.1:p.Asn567LysfsTer? | |
| NM_001354621.2:c.972_973delinsG | NP_001341550.1:p.Asn324LysfsTer? | |
| NM_001354622.2:c.972_973delinsG | NP_001341551.1:p.Asn324LysfsTer? | |
| NM_001354623.2:c.972_973delinsG | NP_001341552.1:p.Asn324LysfsTer? | |
| NM_001354624.2:c.921_922delinsG | NP_001341553.1:p.Asn307LysfsTer? | |
| NM_001354625.2:c.921_922delinsG | NP_001341554.1:p.Asn307LysfsTer? | |
| NM_001354626.2:c.921_922delinsG | NP_001341555.1:p.Asn307LysfsTer? | |
| NM_001354627.2:c.921_922delinsG | NP_001341556.1:p.Asn307LysfsTer? | |
| NM_001354628.2:c.1902_1903delinsG | NP_001341557.1:p.Asn634LysfsTer? | |
| NM_001354629.2:c.1896_1897delinsG | NP_001341558.1:p.Asn632LysfsTer? | |
| NM_001354630.2:c.1830_1831delinsG | NP_001341559.1:p.Asn610LysfsTer? |