Canonical Allele Identifier: CA1955122943
Gene: ABCC8 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395136_17395140delinsCCCAA , CM000673.2:g.17395136_17395140delinsCCCAA GRCh38
NC_000011.9:g.17416683_17416687delinsCCCAA , CM000673.1:g.17416683_17416687delinsCCCAA GRCh37
NC_000011.8:g.17373259_17373263delinsCCCAA NCBI36
NG_008867.1:g.86763_86767delinsTTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4012+32_4012+36delinsTTGGG
ENST00000526037.6:n.346+32_346+36delinsTTGGG
ENST00000528374.2:c.1002+32_1002+36delinsTTGGG
ENST00000529967.6:n.2750+32_2750+36delinsTTGGG
ENST00000532220.2:n.3644+32_3644+36delinsTTGGG
ENST00000642611.2:n.5744+32_5744+36delinsTTGGG
ENST00000644057.2:n.987+32_987+36delinsTTGGG
ENST00000645004.2:n.1910+32_1910+36delinsTTGGG
ENST00000682051.1:n.4573+32_4573+36delinsTTGGG
ENST00000682110.1:n.4626+32_4626+36delinsTTGGG
ENST00000682140.1:c.*197+32_*197+36delinsTTGGG ENSP00000507829.1:n.*197+32_*197+36delinsTTGGG
ENST00000682185.1:n.5716+32_5716+36delinsTTGGG
ENST00000682204.1:c.*2549+32_*2549+36delinsTTGGG ENSP00000507094.1:n.*2549+32_*2549+36delinsTTGGG
ENST00000682215.1:n.4993+32_4993+36delinsTTGGG
ENST00000682288.1:c.*2842+32_*2842+36delinsTTGGG ENSP00000507506.1:n.*2842+32_*2842+36delinsTTGGG
ENST00000682442.1:n.4846+32_4846+36delinsTTGGG
ENST00000682528.1:n.4703+32_4703+36delinsTTGGG
ENST00000682673.1:n.4570+32_4570+36delinsTTGGG
ENST00000682805.1:n.5031+32_5031+36delinsTTGGG
ENST00000682965.1:c.*833+32_*833+36delinsTTGGG ENSP00000508229.1:n.*833+32_*833+36delinsTTGGG
ENST00000683093.1:n.5606+470_5606+474delinsTTGGG
ENST00000683136.1:c.4294+32_4294+36delinsTTGGG ENSP00000507768.1:n.4294+32_4294+36delinsTTGGG
ENST00000683153.1:n.4668+32_4668+36delinsTTGGG
ENST00000683365.1:n.4728+32_4728+36delinsTTGGG
ENST00000683377.1:n.4522+470_4522+474delinsTTGGG
ENST00000683456.1:c.*1548+32_*1548+36delinsTTGGG ENSP00000508318.1:n.*1548+32_*1548+36delinsTTGGG
ENST00000683522.1:n.4658_4662delinsTTGGG
ENST00000683562.1:c.*2476+470_*2476+474delinsTTGGG ENSP00000508265.1:n.*2476+470_*2476+474delinsTTGGG
ENST00000683693.1:n.6087+470_6087+474delinsTTGGG
ENST00000683725.1:c.4307+470_4307+474delinsTTGGG ENSP00000507496.1:n.4307+470_4307+474delinsTTGGG
ENST00000684010.1:n.4621+32_4621+36delinsTTGGG
ENST00000684157.1:n.5611+32_5611+36delinsTTGGG
ENST00000684253.1:n.4529+32_4529+36delinsTTGGG
ENST00000684288.1:c.*2583+32_*2583+36delinsTTGGG ENSP00000507143.1:n.*2583+32_*2583+36delinsTTGGG
ENST00000684313.1:n.4058+32_4058+36delinsTTGGG
ENST00000684332.1:n.4699+32_4699+36delinsTTGGG
ENST00000684371.1:n.4732+32_4732+36delinsTTGGG
ENST00000684404.1:n.5654+32_5654+36delinsTTGGG
ENST00000684442.1:n.4850+32_4850+36delinsTTGGG
ENST00000684555.1:c.*2623+32_*2623+36delinsTTGGG ENSP00000507705.1:n.*2623+32_*2623+36delinsTTGGG
ENST00000684571.1:c.4252+32_4252+36delinsTTGGG ENSP00000506935.1:n.4252+32_4252+36delinsTTGGG
ENST00000684593.1:c.*4116+32_*4116+36delinsTTGGG ENSP00000507005.1:n.*4116+32_*4116+36delinsTTGGG
ENST00000684711.1:c.*2807+32_*2807+36delinsTTGGG ENSP00000506841.1:n.*2807+32_*2807+36delinsTTGGG
ENST00000302539.9:c.4414+32_4414+36delinsTTGGG ENSP00000303960.4:n.4414+32_4414+36delinsTTGGG
ENST00000389817.8:c.4411+32_4411+36delinsTTGGG MANE Select ENSP00000374467.4:n.4411+32_4411+36delinsTTGGG
ENST00000642271.1:c.4408+32_4408+36delinsTTGGG ENSP00000493749.1:n.4408+32_4408+36delinsTTGGG
ENST00000642579.1:c.2465+32_2465+36delinsTTGGG
ENST00000642611.1:n.5629+32_5629+36delinsTTGGG
ENST00000642902.1:c.4193+32_4193+36delinsTTGGG
ENST00000643260.1:c.4411+32_4411+36delinsTTGGG ENSP00000494450.1:n.4411+32_4411+36delinsTTGGG
ENST00000643562.1:c.*2533+32_*2533+36delinsTTGGG ENSP00000496124.1:n.*2533+32_*2533+36delinsTTGGG
ENST00000643925.1:c.3051+32_3051+36delinsTTGGG
ENST00000644057.1:n.520_524delinsTTGGG
ENST00000644484.1:c.*3797+32_*3797+36delinsTTGGG ENSP00000493558.1:n.*3797+32_*3797+36delinsTTGGG
ENST00000644675.1:c.*2583+32_*2583+36delinsTTGGG ENSP00000494567.1:n.*2583+32_*2583+36delinsTTGGG
ENST00000644757.1:c.*3202+1124_*3202+1128delinsTTGGG ENSP00000495085.1:n.*3202+1124_*3202+1128delinsTTGGG
ENST00000644772.1:c.4477+32_4477+36delinsTTGGG ENSP00000494321.1:n.4477+32_4477+36delinsTTGGG
ENST00000645004.1:n.2104+32_2104+36delinsTTGGG
ENST00000645076.1:c.3506+470_3506+474delinsTTGGG
ENST00000645417.1:c.1599+32_1599+36delinsTTGGG
ENST00000645744.1:c.*4096+32_*4096+36delinsTTGGG ENSP00000494564.1:n.*4096+32_*4096+36delinsTTGGG
ENST00000645760.1:c.4832+32_4832+36delinsTTGGG
ENST00000645884.1:c.*1694+32_*1694+36delinsTTGGG ENSP00000495516.1:n.*1694+32_*1694+36delinsTTGGG
ENST00000646003.1:c.*2433+32_*2433+36delinsTTGGG ENSP00000495259.1:n.*2433+32_*2433+36delinsTTGGG
ENST00000646207.1:c.*3248+32_*3248+36delinsTTGGG ENSP00000495025.1:n.*3248+32_*3248+36delinsTTGGG
ENST00000646276.1:c.*3815+32_*3815+36delinsTTGGG ENSP00000496070.1:n.*3815+32_*3815+36delinsTTGGG
ENST00000646592.1:c.3717+32_3717+36delinsTTGGG
ENST00000646902.1:c.4378+32_4378+36delinsTTGGG ENSP00000494101.1:n.4378+32_4378+36delinsTTGGG
ENST00000646993.1:c.*2849+470_*2849+474delinsTTGGG ENSP00000493720.1:n.*2849+470_*2849+474delinsTTGGG
ENST00000647013.1:c.4417+32_4417+36delinsTTGGG ENSP00000496741.1:n.4417+32_4417+36delinsTTGGG
ENST00000647015.1:c.4162+32_4162+36delinsTTGGG ENSP00000495389.1:n.4162+32_4162+36delinsTTGGG
ENST00000647086.1:c.*3997+32_*3997+36delinsTTGGG ENSP00000493677.1:n.*3997+32_*3997+36delinsTTGGG
ENST00000647158.1:c.*2698+32_*2698+36delinsTTGGG ENSP00000495744.1:n.*2698+32_*2698+36delinsTTGGG
ENST00000302539.8:c.4414+32_4414+36delinsTTGGG ENSP00000303960.4:n.4414+32_4414+36delinsTTGGG
ENST00000389817.7:c.4411+32_4411+36delinsTTGGG ENSP00000374467.3:n.4411+32_4411+36delinsTTGGG
ENST00000525022.1:n.306+470_306+474delinsTTGGG
ENST00000526037.5:n.171+470_171+474delinsTTGGG
ENST00000526168.5:c.199+32_199+36delinsTTGGG
ENST00000531642.5:c.442+32_442+36delinsTTGGG
NM_000352.4:c.4411+32_4411+36delinsTTGGG NP_000343.2:n.4411+32_4411+36delinsTTGGG
NM_001287174.1:c.4414+32_4414+36delinsTTGGG NP_001274103.1:n.4414+32_4414+36delinsTTGGG
XM_011520331.1:c.4411+32_4411+36delinsTTGGG XP_011518633.1:n.4411+32_4411+36delinsTTGGG
XM_011520332.1:c.4310+470_4310+474delinsTTGGG XP_011518634.1:n.4310+470_4310+474delinsTTGGG
XM_011520333.1:c.2911+32_2911+36delinsTTGGG XP_011518635.1:n.2911+32_2911+36delinsTTGGG
XR_930890.1:n.4373+470_4373+474delinsTTGGG
NM_001351295.1:c.4477+32_4477+36delinsTTGGG NP_001338224.1:n.4477+32_4477+36delinsTTGGG
NM_001351296.1:c.4411+32_4411+36delinsTTGGG NP_001338225.1:n.4411+32_4411+36delinsTTGGG
NM_001351297.1:c.4408+32_4408+36delinsTTGGG NP_001338226.1:n.4408+32_4408+36delinsTTGGG
NR_147094.1:n.4706+32_4706+36delinsTTGGG
XM_017018197.2:c.4480+32_4480+36delinsTTGGG XP_016873686.1:n.4480+32_4480+36delinsTTGGG
XM_017018199.1:c.4477+32_4477+36delinsTTGGG XP_016873688.1:n.4477+32_4477+36delinsTTGGG
XM_017018201.2:c.4376+470_4376+474delinsTTGGG XP_016873690.1:n.4376+470_4376+474delinsTTGGG
XM_017018202.1:c.2977+32_2977+36delinsTTGGG XP_016873691.1:n.2977+32_2977+36delinsTTGGG
XM_017018204.1:c.2368+32_2368+36delinsTTGGG XP_016873693.1:n.2368+32_2368+36delinsTTGGG
XM_024448668.1:c.2779+32_2779+36delinsTTGGG XP_024304436.1:n.2779+32_2779+36delinsTTGGG
XR_001747945.2:n.4448+470_4448+474delinsTTGGG
XR_001747946.2:n.4379+470_4379+474delinsTTGGG
XR_002957189.1:n.6162+470_6162+474delinsTTGGG
NM_000352.6:c.4411+32_4411+36delinsTTGGG MANE Select NP_000343.2:n.4411+32_4411+36delinsTTGGG
NM_001287174.2:c.4414+32_4414+36delinsTTGGG NP_001274103.1:n.4414+32_4414+36delinsTTGGG
NM_001351295.2:c.4477+32_4477+36delinsTTGGG NP_001338224.1:n.4477+32_4477+36delinsTTGGG
NM_001351296.2:c.4411+32_4411+36delinsTTGGG NP_001338225.1:n.4411+32_4411+36delinsTTGGG
NM_001351297.2:c.4408+32_4408+36delinsTTGGG NP_001338226.1:n.4408+32_4408+36delinsTTGGG
NR_147094.2:n.4706+32_4706+36delinsTTGGG
NM_001287174.3:c.4414+32_4414+36delinsTTGGG NP_001274103.1:n.4414+32_4414+36delinsTTGGG
Search 100 bp 5'
Search 100 bp 3'