Canonical Allele Identifier: CA2574768343

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395132_17395133del , CM000673.2:g.17395132_17395133del	GRCh38
NC_000011.9:g.17416679_17416680del , CM000673.1:g.17416679_17416680del	GRCh37
NC_000011.8:g.17373255_17373256del	NCBI36
NG_008867.1:g.86771_86772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4012+40_4012+41del
ENST00000526037.6:n.346+40_346+41del
ENST00000528374.2:c.1002+40_1002+41del
ENST00000529967.6:n.2750+40_2750+41del
ENST00000532220.2:n.3644+40_3644+41del
ENST00000642611.2:n.5744+40_5744+41del
ENST00000644057.2:n.987+40_987+41del
ENST00000645004.2:n.1910+40_1910+41del
ENST00000682051.1:n.4573+40_4573+41del
ENST00000682110.1:n.4626+40_4626+41del
ENST00000682140.1:c.*197+40_*197+41del	ENSP00000507829.1:n.*197+40_*197+41del
ENST00000682185.1:n.5716+40_5716+41del
ENST00000682204.1:c.*2549+40_*2549+41del	ENSP00000507094.1:n.*2549+40_*2549+41del
ENST00000682215.1:n.4993+40_4993+41del
ENST00000682288.1:c.*2842+40_*2842+41del	ENSP00000507506.1:n.*2842+40_*2842+41del
ENST00000682442.1:n.4846+40_4846+41del
ENST00000682528.1:n.4703+40_4703+41del
ENST00000682673.1:n.4570+40_4570+41del
ENST00000682805.1:n.5031+40_5031+41del
ENST00000682965.1:c.*833+40_*833+41del	ENSP00000508229.1:n.*833+40_*833+41del
ENST00000683093.1:n.5606+478_5606+479del
ENST00000683136.1:c.4294+40_4294+41del	ENSP00000507768.1:n.4294+40_4294+41del
ENST00000683153.1:n.4668+40_4668+41del
ENST00000683365.1:n.4728+40_4728+41del
ENST00000683377.1:n.4522+478_4522+479del
ENST00000683456.1:c.*1548+40_*1548+41del	ENSP00000508318.1:n.*1548+40_*1548+41del
ENST00000683522.1:n.4666_4667del
ENST00000683562.1:c.*2476+478_*2476+479del	ENSP00000508265.1:n.*2476+478_*2476+479del
ENST00000683693.1:n.6087+478_6087+479del
ENST00000683725.1:c.4307+478_4307+479del	ENSP00000507496.1:n.4307+478_4307+479del
ENST00000684010.1:n.4621+40_4621+41del
ENST00000684157.1:n.5611+40_5611+41del
ENST00000684253.1:n.4529+40_4529+41del
ENST00000684288.1:c.*2583+40_*2583+41del	ENSP00000507143.1:n.*2583+40_*2583+41del
ENST00000684313.1:n.4058+40_4058+41del
ENST00000684332.1:n.4699+40_4699+41del
ENST00000684371.1:n.4732+40_4732+41del
ENST00000684404.1:n.5654+40_5654+41del
ENST00000684442.1:n.4850+40_4850+41del
ENST00000684555.1:c.*2623+40_*2623+41del	ENSP00000507705.1:n.*2623+40_*2623+41del
ENST00000684571.1:c.4252+40_4252+41del	ENSP00000506935.1:n.4252+40_4252+41del
ENST00000684593.1:c.*4116+40_*4116+41del	ENSP00000507005.1:n.*4116+40_*4116+41del
ENST00000684711.1:c.*2807+40_*2807+41del	ENSP00000506841.1:n.*2807+40_*2807+41del
ENST00000302539.9:c.4414+40_4414+41del	ENSP00000303960.4:n.4414+40_4414+41del
ENST00000389817.8:c.4411+40_4411+41del MANE Select	ENSP00000374467.4:n.4411+40_4411+41del
ENST00000642271.1:c.4408+40_4408+41del	ENSP00000493749.1:n.4408+40_4408+41del
ENST00000642579.1:c.2465+40_2465+41del
ENST00000642611.1:n.5629+40_5629+41del
ENST00000642902.1:c.4193+40_4193+41del
ENST00000643260.1:c.4411+40_4411+41del	ENSP00000494450.1:n.4411+40_4411+41del
ENST00000643562.1:c.*2533+40_*2533+41del	ENSP00000496124.1:n.*2533+40_*2533+41del
ENST00000643925.1:c.3051+40_3051+41del
ENST00000644057.1:n.528_529del
ENST00000644484.1:c.*3797+40_*3797+41del	ENSP00000493558.1:n.*3797+40_*3797+41del
ENST00000644675.1:c.*2583+40_*2583+41del	ENSP00000494567.1:n.*2583+40_*2583+41del
ENST00000644757.1:c.*3202+1132_*3202+1133del	ENSP00000495085.1:n.*3202+1132_*3202+1133del
ENST00000644772.1:c.4477+40_4477+41del	ENSP00000494321.1:n.4477+40_4477+41del
ENST00000645004.1:n.2104+40_2104+41del
ENST00000645076.1:c.3506+478_3506+479del
ENST00000645417.1:c.1599+40_1599+41del
ENST00000645744.1:c.*4096+40_*4096+41del	ENSP00000494564.1:n.*4096+40_*4096+41del
ENST00000645760.1:c.4832+40_4832+41del
ENST00000645884.1:c.*1694+40_*1694+41del	ENSP00000495516.1:n.*1694+40_*1694+41del
ENST00000646003.1:c.*2433+40_*2433+41del	ENSP00000495259.1:n.*2433+40_*2433+41del
ENST00000646207.1:c.*3248+40_*3248+41del	ENSP00000495025.1:n.*3248+40_*3248+41del
ENST00000646276.1:c.*3815+40_*3815+41del	ENSP00000496070.1:n.*3815+40_*3815+41del
ENST00000646592.1:c.3717+40_3717+41del
ENST00000646902.1:c.4378+40_4378+41del	ENSP00000494101.1:n.4378+40_4378+41del
ENST00000646993.1:c.*2849+478_*2849+479del	ENSP00000493720.1:n.*2849+478_*2849+479del
ENST00000647013.1:c.4417+40_4417+41del	ENSP00000496741.1:n.4417+40_4417+41del
ENST00000647015.1:c.4162+40_4162+41del	ENSP00000495389.1:n.4162+40_4162+41del
ENST00000647086.1:c.*3997+40_*3997+41del	ENSP00000493677.1:n.*3997+40_*3997+41del
ENST00000647158.1:c.*2698+40_*2698+41del	ENSP00000495744.1:n.*2698+40_*2698+41del
ENST00000302539.8:c.4414+40_4414+41del	ENSP00000303960.4:n.4414+40_4414+41del
ENST00000389817.7:c.4411+40_4411+41del	ENSP00000374467.3:n.4411+40_4411+41del
ENST00000525022.1:n.306+478_306+479del
ENST00000526037.5:n.171+478_171+479del
ENST00000526168.5:c.199+40_199+41del
ENST00000531642.5:c.442+40_442+41del
NM_000352.4:c.4411+40_4411+41del	NP_000343.2:n.4411+40_4411+41del
NM_001287174.1:c.4414+40_4414+41del	NP_001274103.1:n.4414+40_4414+41del
XM_011520331.1:c.4411+40_4411+41del	XP_011518633.1:n.4411+40_4411+41del
XM_011520332.1:c.4310+478_4310+479del	XP_011518634.1:n.4310+478_4310+479del
XM_011520333.1:c.2911+40_2911+41del	XP_011518635.1:n.2911+40_2911+41del
XR_930890.1:n.4373+478_4373+479del
NM_001351295.1:c.4477+40_4477+41del	NP_001338224.1:n.4477+40_4477+41del
NM_001351296.1:c.4411+40_4411+41del	NP_001338225.1:n.4411+40_4411+41del
NM_001351297.1:c.4408+40_4408+41del	NP_001338226.1:n.4408+40_4408+41del
NR_147094.1:n.4706+40_4706+41del
XM_017018197.2:c.4480+40_4480+41del	XP_016873686.1:n.4480+40_4480+41del
XM_017018199.1:c.4477+40_4477+41del	XP_016873688.1:n.4477+40_4477+41del
XM_017018201.2:c.4376+478_4376+479del	XP_016873690.1:n.4376+478_4376+479del
XM_017018202.1:c.2977+40_2977+41del	XP_016873691.1:n.2977+40_2977+41del
XM_017018204.1:c.2368+40_2368+41del	XP_016873693.1:n.2368+40_2368+41del
XM_024448668.1:c.2779+40_2779+41del	XP_024304436.1:n.2779+40_2779+41del
XR_001747945.2:n.4448+478_4448+479del
XR_001747946.2:n.4379+478_4379+479del
XR_002957189.1:n.6162+478_6162+479del
NM_000352.6:c.4411+40_4411+41del MANE Select	NP_000343.2:n.4411+40_4411+41del
NM_001287174.2:c.4414+40_4414+41del	NP_001274103.1:n.4414+40_4414+41del
NM_001351295.2:c.4477+40_4477+41del	NP_001338224.1:n.4477+40_4477+41del
NM_001351296.2:c.4411+40_4411+41del	NP_001338225.1:n.4411+40_4411+41del
NM_001351297.2:c.4408+40_4408+41del	NP_001338226.1:n.4408+40_4408+41del
NR_147094.2:n.4706+40_4706+41del
NM_001287174.3:c.4414+40_4414+41del	NP_001274103.1:n.4414+40_4414+41del