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
dbSNP Id:
rs1954402247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404392_17404393insG , CM000673.2:g.17404392_17404393insG | GRCh38 |
| NC_000011.9:g.17425939_17425940insG , CM000673.1:g.17425939_17425940insG | GRCh37 |
| NC_000011.8:g.17382515_17382516insG | NCBI36 |
| NG_008867.1:g.77510_77511insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3126+119_3126+120insC | ||
| ENST00000528374.2:c.136+119_136+120insC | ||
| ENST00000529967.6:n.1896+119_1896+120insC | ||
| ENST00000532220.2:n.1289+119_1289+120insC | ||
| ENST00000642611.2:n.3626+119_3626+120insC | ||
| ENST00000645004.2:n.1056+119_1056+120insC | ||
| ENST00000682051.1:n.3573+119_3573+120insC | ||
| ENST00000682110.1:n.3626+119_3626+120insC | ||
| ENST00000682140.1:c.3554+119_3554+120insC | ENSP00000507829.1:n.3554+119_3554+120insC | |
| ENST00000682185.1:n.4862+119_4862+120insC | ||
| ENST00000682204.1:c.*1695+119_*1695+120insC | ENSP00000507094.1:n.*1695+119_*1695+120insC | |
| ENST00000682215.1:n.3623+119_3623+120insC | ||
| ENST00000682288.1:c.*1988+119_*1988+120insC | ENSP00000507506.1:n.*1988+119_*1988+120insC | |
| ENST00000682442.1:n.3846+119_3846+120insC | ||
| ENST00000682528.1:n.3703+119_3703+120insC | ||
| ENST00000682673.1:n.3570+119_3570+120insC | ||
| ENST00000682805.1:n.3623+119_3623+120insC | ||
| ENST00000682965.1:c.3396+1101_3396+1102insC | ENSP00000508229.1:n.3396+1101_3396+1102insC | |
| ENST00000683093.1:n.3725+119_3725+120insC | ||
| ENST00000683136.1:c.3554+119_3554+120insC | ENSP00000507768.1:n.3554+119_3554+120insC | |
| ENST00000683153.1:n.3782+119_3782+120insC | ||
| ENST00000683365.1:n.3728+119_3728+120insC | ||
| ENST00000683377.1:n.3626+119_3626+120insC | ||
| ENST00000683456.1:c.*694+119_*694+120insC | ENSP00000508318.1:n.*694+119_*694+120insC | |
| ENST00000683522.1:n.3626+119_3626+120insC | ||
| ENST00000683562.1:c.*1726+119_*1726+120insC | ENSP00000508265.1:n.*1726+119_*1726+120insC | |
| ENST00000683693.1:n.3703+119_3703+120insC | ||
| ENST00000683725.1:c.3557+119_3557+120insC | ENSP00000507496.1:n.3557+119_3557+120insC | |
| ENST00000684010.1:n.3621+119_3621+120insC | ||
| ENST00000684157.1:n.3626+119_3626+120insC | ||
| ENST00000684253.1:n.3529+119_3529+120insC | ||
| ENST00000684288.1:c.*1729+119_*1729+120insC | ENSP00000507143.1:n.*1729+119_*1729+120insC | |
| ENST00000684313.1:n.3058+119_3058+120insC | ||
| ENST00000684332.1:n.3699+119_3699+120insC | ||
| ENST00000684371.1:n.3732+119_3732+120insC | ||
| ENST00000684404.1:n.3669+119_3669+120insC | ||
| ENST00000684442.1:n.3626+119_3626+120insC | ||
| ENST00000684555.1:c.*1769+119_*1769+120insC | ENSP00000507705.1:n.*1769+119_*1769+120insC | |
| ENST00000684571.1:c.3398+119_3398+120insC | ENSP00000506935.1:n.3398+119_3398+120insC | |
| ENST00000684593.1:c.*3262+119_*3262+120insC | ENSP00000507005.1:n.*3262+119_*3262+120insC | |
| ENST00000684711.1:c.*1953+119_*1953+120insC | ENSP00000506841.1:n.*1953+119_*1953+120insC | |
| ENST00000302539.9:c.3560+119_3560+120insC | ENSP00000303960.4:n.3560+119_3560+120insC | |
| ENST00000389817.8:c.3557+119_3557+120insC MANE Select | ENSP00000374467.4:n.3557+119_3557+120insC | |
| ENST00000642271.1:c.3554+119_3554+120insC | ENSP00000493749.1:n.3554+119_3554+120insC | |
| ENST00000642579.1:c.1641+119_1641+120insC | ||
| ENST00000642611.1:n.3511+119_3511+120insC | ||
| ENST00000642902.1:c.3339+119_3339+120insC | ||
| ENST00000643260.1:c.3557+119_3557+120insC | ENSP00000494450.1:n.3557+119_3557+120insC | |
| ENST00000643562.1:c.*1533+119_*1533+120insC | ENSP00000496124.1:n.*1533+119_*1533+120insC | |
| ENST00000643925.1:c.1681+119_1681+120insC | ||
| ENST00000644447.1:c.1913+119_1913+120insC | ENSP00000496282.1:n.1913+119_1913+120insC | |
| ENST00000644484.1:c.*1812+119_*1812+120insC | ENSP00000493558.1:n.*1812+119_*1812+120insC | |
| ENST00000644675.1:c.*1729+119_*1729+120insC | ENSP00000494567.1:n.*1729+119_*1729+120insC | |
| ENST00000644757.1:c.*1842+119_*1842+120insC | ENSP00000495085.1:n.*1842+119_*1842+120insC | |
| ENST00000644772.1:c.3623+119_3623+120insC | ENSP00000494321.1:n.3623+119_3623+120insC | |
| ENST00000645004.1:n.696+119_696+120insC | ||
| ENST00000645076.1:c.2756+119_2756+120insC | ||
| ENST00000645417.1:c.723+119_723+120insC | ||
| ENST00000645744.1:c.*1821+119_*1821+120insC | ENSP00000494564.1:n.*1821+119_*1821+120insC | |
| ENST00000645760.1:c.3832+119_3832+120insC | ||
| ENST00000645884.1:c.*694+119_*694+120insC | ENSP00000495516.1:n.*694+119_*694+120insC | |
| ENST00000646003.1:c.*1513+119_*1513+120insC | ENSP00000495259.1:n.*1513+119_*1513+120insC | |
| ENST00000646207.1:c.*2024+119_*2024+120insC | ENSP00000495025.1:n.*2024+119_*2024+120insC | |
| ENST00000646276.1:c.*1830+119_*1830+120insC | ENSP00000496070.1:n.*1830+119_*1830+120insC | |
| ENST00000646592.1:c.2863+119_2863+120insC | ||
| ENST00000646902.1:c.3554+119_3554+120insC | ENSP00000494101.1:n.3554+119_3554+120insC | |
| ENST00000646993.1:c.*1953+119_*1953+120insC | ENSP00000493720.1:n.*1953+119_*1953+120insC | |
| ENST00000647013.1:c.3563+119_3563+120insC | ENSP00000496741.1:n.3563+119_3563+120insC | |
| ENST00000647015.1:c.3308+119_3308+120insC | ENSP00000495389.1:n.3308+119_3308+120insC | |
| ENST00000647086.1:c.*3287+119_*3287+120insC | ENSP00000493677.1:n.*3287+119_*3287+120insC | |
| ENST00000647158.1:c.*1698+119_*1698+120insC | ENSP00000495744.1:n.*1698+119_*1698+120insC | |
| ENST00000302539.8:c.3560+119_3560+120insC | ENSP00000303960.4:n.3560+119_3560+120insC | |
| ENST00000389817.7:c.3557+119_3557+120insC | ENSP00000374467.3:n.3557+119_3557+120insC | |
| ENST00000524561.1:n.689+119_689+120insC | ||
| ENST00000527905.5:c.*433+119_*433+120insC | ENSP00000431653.1:n.*433+119_*433+120insC | |
| ENST00000528374.1:c.27+119_27+120insC | ||
| ENST00000531137.1:n.50+119_50+120insC | ||
| NM_000352.4:c.3557+119_3557+120insC | NP_000343.2:n.3557+119_3557+120insC | |
| NM_001287174.1:c.3560+119_3560+120insC | NP_001274103.1:n.3560+119_3560+120insC | |
| XM_011520331.1:c.3557+119_3557+120insC | XP_011518633.1:n.3557+119_3557+120insC | |
| XM_011520332.1:c.3560+119_3560+120insC | XP_011518634.1:n.3560+119_3560+120insC | |
| XM_011520333.1:c.2057+119_2057+120insC | XP_011518635.1:n.2057+119_2057+120insC | |
| XR_930890.1:n.3623+119_3623+120insC | ||
| XR_930892.1:n.3523+119_3523+120insC | ||
| XR_930893.1:n.3520+119_3520+120insC | ||
| NM_001351295.1:c.3623+119_3623+120insC | NP_001338224.1:n.3623+119_3623+120insC | |
| NM_001351296.1:c.3557+119_3557+120insC | NP_001338225.1:n.3557+119_3557+120insC | |
| NM_001351297.1:c.3554+119_3554+120insC | NP_001338226.1:n.3554+119_3554+120insC | |
| NR_147094.1:n.3706+119_3706+120insC | ||
| XM_017018197.2:c.3626+119_3626+120insC | XP_016873686.1:n.3626+119_3626+120insC | |
| XM_017018199.1:c.3623+119_3623+120insC | XP_016873688.1:n.3623+119_3623+120insC | |
| XM_017018201.2:c.3626+119_3626+120insC | XP_016873690.1:n.3626+119_3626+120insC | |
| XM_017018202.1:c.2123+119_2123+120insC | XP_016873691.1:n.2123+119_2123+120insC | |
| XM_017018204.1:c.1514+119_1514+120insC | XP_016873693.1:n.1514+119_1514+120insC | |
| XM_024448668.1:c.1925+119_1925+120insC | XP_024304436.1:n.1925+119_1925+120insC | |
| XR_001747945.2:n.3698+119_3698+120insC | ||
| XR_001747946.2:n.3629+119_3629+120insC | ||
| XR_002957189.1:n.3778+119_3778+120insC | ||
| NM_000352.6:c.3557+119_3557+120insC MANE Select | NP_000343.2:n.3557+119_3557+120insC | |
| NM_001287174.2:c.3560+119_3560+120insC | NP_001274103.1:n.3560+119_3560+120insC | |
| NM_001351295.2:c.3623+119_3623+120insC | NP_001338224.1:n.3623+119_3623+120insC | |
| NM_001351296.2:c.3557+119_3557+120insC | NP_001338225.1:n.3557+119_3557+120insC | |
| NM_001351297.2:c.3554+119_3554+120insC | NP_001338226.1:n.3554+119_3554+120insC | |
| NR_147094.2:n.3706+119_3706+120insC | ||
| NM_001287174.3:c.3560+119_3560+120insC | NP_001274103.1:n.3560+119_3560+120insC |