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
gnomAD v4:
1-45329408-C-CGGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45329409_45329412dup , CM000663.2:g.45329409_45329412dup | GRCh38 |
| NC_000001.10:g.45795081_45795084dup , CM000663.1:g.45795081_45795084dup | GRCh37 |
| NC_000001.9:g.45567668_45567671dup | NCBI36 |
| NG_008189.1:g.16059_16062dup , LRG_220:g.16059_16062dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.1076_1079dup | ENSP00000410263.2:p.Cys361SerfsTer16 | |
| ENST00000435155.2:c.1493_1496dup | ENSP00000403655.2:p.Cys500SerfsTer16 | |
| ENST00000467459.6:c.*322_*325dup | ENSP00000435889.2:n.*322_*325dup | |
| ENST00000483127.2:c.1478_1481dup | ENSP00000436469.2:p.Cys495SerfsTer16 | |
| ENST00000485271.6:c.*203_*206dup | ENSP00000431264.2:n.*203_*206dup | |
| ENST00000529892.6:c.1313_1316dup | ENSP00000432528.2:p.Cys440SerfsTer16 | |
| ENST00000533178.6:c.*789_*792dup | ENSP00000436430.2:n.*789_*792dup | |
| ENST00000672314.2:c.1460_1463dup | ENSP00000500828.2:p.Cys489SerfsTer16 | |
| ENST00000710952.2:c.1544_1547dup MANE Plus Clinical | ENSP00000518552.2:p.Cys517SerfsTer16 | |
| ENST00000672818.3:c.1535_1538dup | ENSP00000500891.1:p.Cys514SerfsTer16 | |
| ENST00000456914.7:c.1460_1463dup MANE Select | ENSP00000407590.2:p.Cys489SerfsTer16 | |
| ENST00000671898.1:c.*203_*206dup | ENSP00000499896.1:n.*203_*206dup | |
| ENST00000672011.1:c.*789_*792dup | ENSP00000500418.1:n.*789_*792dup | |
| ENST00000672818.2:c.1535_1538dup | ENSP00000500891.1:p.Cys514SerfsTer16 | |
| ENST00000354383.10:c.1463_1466dup | ENSP00000346354.6:p.Cys490SerfsTer16 | |
| ENST00000355498.6:c.1460_1463dup | ENSP00000347685.2:p.Cys489SerfsTer16 | |
| ENST00000372098.7:c.1535_1538dup | ENSP00000361170.3:p.Cys514SerfsTer16 | |
| ENST00000372104.5:c.1460_1463dup | ENSP00000361176.1:p.Cys489SerfsTer16 | |
| ENST00000372110.7:c.1505_1508dup | ENSP00000361182.3:p.Cys504SerfsTer16 | |
| ENST00000372115.7:c.1502_1505dup | ENSP00000361187.3:p.Cys503SerfsTer16 | |
| ENST00000448481.5:c.1493_1496dup | ENSP00000409718.1:p.Cys500SerfsTer16 | |
| ENST00000450313.5:c.1544_1547dup | ENSP00000408176.1:p.Cys517SerfsTer16 | |
| ENST00000456914.6:c.1460_1463dup | ENSP00000407590.2:p.Cys489SerfsTer16 | |
| ENST00000467459.5:c.877_880dup | ENSP00000435889.1:n.877_880dup | |
| ENST00000475516.5:c.*1273_*1276dup | ENSP00000433843.1:n.*1273_*1276dup | |
| ENST00000481571.5:c.*1273_*1276dup | ENSP00000436597.1:n.*1273_*1276dup | |
| ENST00000482094.5:n.781_784dup | ||
| ENST00000485271.5:c.337_340dup | ||
| ENST00000488731.6:c.545_548dup | ENSP00000432330.1:p.Cys184SerfsTer16 | |
| ENST00000528013.6:c.1502_1505dup | ENSP00000433130.2:p.Cys503SerfsTer16 | |
| ENST00000529892.5:c.535_538dup | ||
| ENST00000529984.5:c.545_548dup | ENSP00000437093.1:p.Cys184SerfsTer16 | |
| ENST00000531105.5:c.141_144dup | ENSP00000431292.1:p.Val49LeufsTer? | |
| ENST00000533178.5:c.1089_1092dup | ENSP00000436430.1:n.1089_1092dup | |
| NM_001048171.1:c.1502_1505dup | NP_001041636.1:p.Cys503SerfsTer16 | |
| NM_001048172.1:c.1463_1466dup | NP_001041637.1:p.Cys490SerfsTer16 | |
| NM_001048173.1:c.1460_1463dup | NP_001041638.1:p.Cys489SerfsTer16 | |
| NM_001048174.1:c.1460_1463dup | NP_001041639.1:p.Cys489SerfsTer16 | |
| NM_001128425.1:c.1544_1547dup , LRG_220t1:c.1544_1547dup | NP_001121897.1:p.Cys517SerfsTer16 | |
| NM_001293190.1:c.1505_1508dup | NP_001280119.1:p.Cys504SerfsTer16 | |
| NM_001293191.1:c.1493_1496dup | NP_001280120.1:p.Cys500SerfsTer16 | |
| NM_001293192.1:c.1184_1187dup | NP_001280121.1:p.Cys397SerfsTer16 | |
| NM_001293195.1:c.1460_1463dup | NP_001280124.1:p.Cys489SerfsTer16 | |
| NM_001293196.1:c.1184_1187dup | NP_001280125.1:p.Cys397SerfsTer16 | |
| NM_012222.2:c.1535_1538dup | NP_036354.1:p.Cys514SerfsTer16 | |
| XM_011541497.1:c.1520_1523dup | XP_011539799.1:p.Cys509SerfsTer16 | |
| XM_011541498.1:c.1502_1505dup | XP_011539800.1:p.Cys503SerfsTer16 | |
| XM_011541499.1:c.1502_1505dup | XP_011539801.1:p.Cys503SerfsTer16 | |
| XM_011541500.1:c.1502_1505dup | XP_011539802.1:p.Cys503SerfsTer16 | |
| XM_011541501.1:c.1502_1505dup | XP_011539803.1:p.Cys503SerfsTer16 | |
| XM_011541502.1:c.1502_1505dup | XP_011539804.1:p.Cys503SerfsTer16 | |
| XM_011541503.1:c.1502_1505dup | XP_011539805.1:p.Cys503SerfsTer16 | |
| XM_011541504.1:c.1493_1496dup | XP_011539806.1:p.Cys500SerfsTer16 | |
| XM_011541505.1:c.1082_1085dup | XP_011539807.1:p.Cys363SerfsTer16 | |
| XM_011541506.1:c.1082_1085dup | XP_011539808.1:p.Cys363SerfsTer16 | |
| XM_011541507.1:c.1073_1076dup | XP_011539809.1:p.Cys360SerfsTer16 | |
| XM_011541508.1:c.1088_1091dup | XP_011539810.1:p.Cys365SerfsTer16 | |
| XR_946658.1:n.1771_1774dup | ||
| NM_001350650.1:c.1115_1118dup | NP_001337579.1:p.Cys374SerfsTer16 | |
| NM_001350651.1:c.1115_1118dup | NP_001337580.1:p.Cys374SerfsTer16 | |
| NR_146882.1:n.1898_1901dup | ||
| NR_146883.1:n.1712_1715dup | ||
| XM_011541497.3:c.1520_1523dup | XP_011539799.1:p.Cys509SerfsTer16 | |
| XM_011541500.3:c.1502_1505dup | XP_011539802.1:p.Cys503SerfsTer16 | |
| XM_011541501.2:c.1502_1505dup | XP_011539803.1:p.Cys503SerfsTer16 | |
| XM_011541502.2:c.1502_1505dup | XP_011539804.1:p.Cys503SerfsTer16 | |
| XM_011541503.2:c.1502_1505dup | XP_011539805.1:p.Cys503SerfsTer16 | |
| XM_011541504.2:c.1493_1496dup | XP_011539806.1:p.Cys500SerfsTer16 | |
| XM_011541505.2:c.1082_1085dup | XP_011539807.1:p.Cys363SerfsTer16 | |
| XM_011541506.2:c.1082_1085dup | XP_011539808.1:p.Cys363SerfsTer16 | |
| XM_017001331.1:c.1502_1505dup | XP_016856820.1:p.Cys503SerfsTer16 | |
| XM_017001332.1:c.1502_1505dup | XP_016856821.1:p.Cys503SerfsTer16 | |
| XM_017001333.1:c.1502_1505dup | XP_016856822.1:p.Cys503SerfsTer16 | |
| XM_017001334.1:c.1463_1466dup | XP_016856823.1:p.Cys490SerfsTer16 | |
| XM_017001335.1:c.1184_1187dup | XP_016856824.1:p.Cys397SerfsTer16 | |
| XM_017001336.1:c.1115_1118dup | XP_016856825.1:p.Cys374SerfsTer16 | |
| XM_017001337.1:c.1115_1118dup | XP_016856826.1:p.Cys374SerfsTer16 | |
| XM_024447244.1:c.1115_1118dup | XP_024303012.1:p.Cys374SerfsTer16 | |
| XM_024447245.1:c.1115_1118dup | XP_024303013.1:p.Cys374SerfsTer16 | |
| XM_024447248.1:c.1073_1076dup | XP_024303016.1:p.Cys360SerfsTer16 | |
| XM_024447249.1:c.944_947dup | XP_024303017.1:p.Cys317SerfsTer16 | |
| XM_024447250.1:c.944_947dup | XP_024303018.1:p.Cys317SerfsTer16 | |
| XM_024447251.1:c.944_947dup | XP_024303019.1:p.Cys317SerfsTer16 | |
| XR_001737190.1:n.1685_1688dup | ||
| XR_001737192.1:n.1497_1500dup | ||
| XR_002956643.1:n.1677_1680dup | ||
| XR_002956644.1:n.2212_2215dup | ||
| XR_946658.2:n.1785_1788dup | ||
| NM_001048171.2:c.1460_1463dup | NP_001041636.2:p.Cys489SerfsTer16 | |
| NM_001128425.2:c.1544_1547dup MANE Plus Clinical | NP_001121897.1:p.Cys517SerfsTer16 | |
| NM_001048172.2:c.1463_1466dup | NP_001041637.1:p.Cys490SerfsTer16 | |
| NM_001048173.2:c.1460_1463dup | NP_001041638.1:p.Cys489SerfsTer16 | |
| NM_001048174.2:c.1460_1463dup MANE Select | NP_001041639.1:p.Cys489SerfsTer16 | |
| NM_001293190.2:c.1505_1508dup | NP_001280119.1:p.Cys504SerfsTer16 | |
| NM_001293191.2:c.1493_1496dup | NP_001280120.1:p.Cys500SerfsTer16 | |
| NM_001293192.2:c.1184_1187dup | NP_001280121.1:p.Cys397SerfsTer16 | |
| NM_001293195.2:c.1460_1463dup | NP_001280124.1:p.Cys489SerfsTer16 | |
| NM_001293196.2:c.1184_1187dup | NP_001280125.1:p.Cys397SerfsTer16 | |
| NM_001350650.2:c.1115_1118dup | NP_001337579.1:p.Cys374SerfsTer16 | |
| NM_001350651.2:c.1115_1118dup | NP_001337580.1:p.Cys374SerfsTer16 | |
| NM_012222.3:c.1535_1538dup | NP_036354.1:p.Cys514SerfsTer16 | |
| NR_146882.2:n.1868_1871dup | ||
| NR_146883.2:n.1717_1720dup |