Canonical Allele Identifier: CA1955123657
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396463_17396471delinsAAGTGAGAC , CM000673.2:g.17396463_17396471delinsAAGTGAGAC GRCh38
NC_000011.9:g.17418010_17418018delinsAAGTGAGAC , CM000673.1:g.17418010_17418018delinsAAGTGAGAC GRCh37
NC_000011.8:g.17374586_17374594delinsAAGTGAGAC NCBI36
NG_008867.1:g.85432_85440delinsGTCTCACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3720+445_3720+453delinsGTCTCACTT
ENST00000528374.2:c.710+445_710+453delinsGTCTCACTT
ENST00000529967.6:n.2458+445_2458+453delinsGTCTCACTT
ENST00000532220.2:n.2812_2820delinsGTCTCACTT
ENST00000642611.2:n.4779_4787delinsGTCTCACTT
ENST00000644057.2:n.562+445_562+453delinsGTCTCACTT
ENST00000645004.2:n.1618+445_1618+453delinsGTCTCACTT
ENST00000682051.1:n.4281+445_4281+453delinsGTCTCACTT
ENST00000682110.1:n.4334+445_4334+453delinsGTCTCACTT
ENST00000682140.1:c.3986-541_3986-533delinsGTCTCACTT ENSP00000507829.1:n.3986-541_3986-533delinsGTCTCACTT
ENST00000682185.1:n.5424+445_5424+453delinsGTCTCACTT
ENST00000682204.1:c.*2257+445_*2257+453delinsGTCTCACTT ENSP00000507094.1:n.*2257+445_*2257+453delinsGTCTCACTT
ENST00000682215.1:n.4701+445_4701+453delinsGTCTCACTT
ENST00000682288.1:c.*2550+445_*2550+453delinsGTCTCACTT ENSP00000507506.1:n.*2550+445_*2550+453delinsGTCTCACTT
ENST00000682442.1:n.4554+445_4554+453delinsGTCTCACTT
ENST00000682528.1:n.4411+445_4411+453delinsGTCTCACTT
ENST00000682673.1:n.4278+445_4278+453delinsGTCTCACTT
ENST00000682805.1:n.4739+407_4739+415delinsGTCTCACTT
ENST00000682965.1:c.*541+445_*541+453delinsGTCTCACTT ENSP00000508229.1:n.*541+445_*541+453delinsGTCTCACTT
ENST00000683093.1:n.4878_4886delinsGTCTCACTT
ENST00000683136.1:c.4002+445_4002+453delinsGTCTCACTT ENSP00000507768.1:n.4002+445_4002+453delinsGTCTCACTT
ENST00000683153.1:n.4376+445_4376+453delinsGTCTCACTT
ENST00000683365.1:n.4436+445_4436+453delinsGTCTCACTT
ENST00000683377.1:n.4334+445_4334+453delinsGTCTCACTT
ENST00000683456.1:c.*1256+445_*1256+453delinsGTCTCACTT ENSP00000508318.1:n.*1256+445_*1256+453delinsGTCTCACTT
ENST00000683522.1:n.4334+445_4334+453delinsGTCTCACTT
ENST00000683562.1:c.*2288+445_*2288+453delinsGTCTCACTT ENSP00000508265.1:n.*2288+445_*2288+453delinsGTCTCACTT
ENST00000683693.1:n.5226_5234delinsGTCTCACTT
ENST00000683725.1:c.4119+445_4119+453delinsGTCTCACTT ENSP00000507496.1:n.4119+445_4119+453delinsGTCTCACTT
ENST00000684010.1:n.4329+445_4329+453delinsGTCTCACTT
ENST00000684157.1:n.4779_4787delinsGTCTCACTT
ENST00000684253.1:n.4237+445_4237+453delinsGTCTCACTT
ENST00000684288.1:c.*2291+445_*2291+453delinsGTCTCACTT ENSP00000507143.1:n.*2291+445_*2291+453delinsGTCTCACTT
ENST00000684313.1:n.3766+445_3766+453delinsGTCTCACTT
ENST00000684332.1:n.4407+445_4407+453delinsGTCTCACTT
ENST00000684371.1:n.4440+445_4440+453delinsGTCTCACTT
ENST00000684404.1:n.4822_4830delinsGTCTCACTT
ENST00000684442.1:n.4558+445_4558+453delinsGTCTCACTT
ENST00000684555.1:c.*2331+445_*2331+453delinsGTCTCACTT ENSP00000507705.1:n.*2331+445_*2331+453delinsGTCTCACTT
ENST00000684571.1:c.3960+445_3960+453delinsGTCTCACTT ENSP00000506935.1:n.3960+445_3960+453delinsGTCTCACTT
ENST00000684593.1:c.*3824+445_*3824+453delinsGTCTCACTT ENSP00000507005.1:n.*3824+445_*3824+453delinsGTCTCACTT
ENST00000684711.1:c.*2515+445_*2515+453delinsGTCTCACTT ENSP00000506841.1:n.*2515+445_*2515+453delinsGTCTCACTT
ENST00000302539.9:c.4122+445_4122+453delinsGTCTCACTT ENSP00000303960.4:n.4122+445_4122+453delinsGTCTCACTT
ENST00000389817.8:c.4119+445_4119+453delinsGTCTCACTT MANE Select ENSP00000374467.4:n.4119+445_4119+453delinsGTCTCACTT
ENST00000642271.1:c.4116+445_4116+453delinsGTCTCACTT ENSP00000493749.1:n.4116+445_4116+453delinsGTCTCACTT
ENST00000642579.1:c.2173+445_2173+453delinsGTCTCACTT
ENST00000642611.1:n.4664_4672delinsGTCTCACTT
ENST00000642902.1:c.3901+445_3901+453delinsGTCTCACTT
ENST00000643260.1:c.4119+445_4119+453delinsGTCTCACTT ENSP00000494450.1:n.4119+445_4119+453delinsGTCTCACTT
ENST00000643562.1:c.*2241+445_*2241+453delinsGTCTCACTT ENSP00000496124.1:n.*2241+445_*2241+453delinsGTCTCACTT
ENST00000643925.1:c.2759+445_2759+453delinsGTCTCACTT
ENST00000644057.1:n.196+445_196+453delinsGTCTCACTT
ENST00000644484.1:c.*2965_*2973delinsGTCTCACTT ENSP00000493558.1:n.*2965_*2973delinsGTCTCACTT
ENST00000644675.1:c.*2291+445_*2291+453delinsGTCTCACTT ENSP00000494567.1:n.*2291+445_*2291+453delinsGTCTCACTT
ENST00000644757.1:c.*2995_*3003delinsGTCTCACTT ENSP00000495085.1:n.*2995_*3003delinsGTCTCACTT
ENST00000644772.1:c.4185+445_4185+453delinsGTCTCACTT ENSP00000494321.1:n.4185+445_4185+453delinsGTCTCACTT
ENST00000645004.1:n.1812+407_1812+415delinsGTCTCACTT
ENST00000645076.1:c.3318+445_3318+453delinsGTCTCACTT
ENST00000645417.1:c.1307+445_1307+453delinsGTCTCACTT
ENST00000645744.1:c.*3344_*3352delinsGTCTCACTT ENSP00000494564.1:n.*3344_*3352delinsGTCTCACTT
ENST00000645760.1:c.4540+445_4540+453delinsGTCTCACTT
ENST00000645884.1:c.*1402+445_*1402+453delinsGTCTCACTT ENSP00000495516.1:n.*1402+445_*1402+453delinsGTCTCACTT
ENST00000646003.1:c.*2221+445_*2221+453delinsGTCTCACTT ENSP00000495259.1:n.*2221+445_*2221+453delinsGTCTCACTT
ENST00000646207.1:c.*2956+445_*2956+453delinsGTCTCACTT ENSP00000495025.1:n.*2956+445_*2956+453delinsGTCTCACTT
ENST00000646276.1:c.*2983_*2991delinsGTCTCACTT ENSP00000496070.1:n.*2983_*2991delinsGTCTCACTT
ENST00000646592.1:c.3425+445_3425+453delinsGTCTCACTT
ENST00000646902.1:c.4086+445_4086+453delinsGTCTCACTT ENSP00000494101.1:n.4086+445_4086+453delinsGTCTCACTT
ENST00000646993.1:c.*2661+445_*2661+453delinsGTCTCACTT ENSP00000493720.1:n.*2661+445_*2661+453delinsGTCTCACTT
ENST00000647013.1:c.4125+445_4125+453delinsGTCTCACTT ENSP00000496741.1:n.4125+445_4125+453delinsGTCTCACTT
ENST00000647015.1:c.3870+445_3870+453delinsGTCTCACTT ENSP00000495389.1:n.3870+445_3870+453delinsGTCTCACTT
ENST00000647086.1:c.*3705+445_*3705+453delinsGTCTCACTT ENSP00000493677.1:n.*3705+445_*3705+453delinsGTCTCACTT
ENST00000647158.1:c.*2406+445_*2406+453delinsGTCTCACTT ENSP00000495744.1:n.*2406+445_*2406+453delinsGTCTCACTT
ENST00000302539.8:c.4122+445_4122+453delinsGTCTCACTT ENSP00000303960.4:n.4122+445_4122+453delinsGTCTCACTT
ENST00000389817.7:c.4119+445_4119+453delinsGTCTCACTT ENSP00000374467.3:n.4119+445_4119+453delinsGTCTCACTT
ENST00000528374.1:c.601+445_601+453delinsGTCTCACTT
ENST00000532220.1:n.593+445_593+453delinsGTCTCACTT
NM_000352.4:c.4119+445_4119+453delinsGTCTCACTT NP_000343.2:n.4119+445_4119+453delinsGTCTCACTT
NM_001287174.1:c.4122+445_4122+453delinsGTCTCACTT NP_001274103.1:n.4122+445_4122+453delinsGTCTCACTT
XM_011520331.1:c.4119+445_4119+453delinsGTCTCACTT XP_011518633.1:n.4119+445_4119+453delinsGTCTCACTT
XM_011520332.1:c.4122+445_4122+453delinsGTCTCACTT XP_011518634.1:n.4122+445_4122+453delinsGTCTCACTT
XM_011520333.1:c.2619+445_2619+453delinsGTCTCACTT XP_011518635.1:n.2619+445_2619+453delinsGTCTCACTT
XR_930890.1:n.4185+445_4185+453delinsGTCTCACTT
NM_001351295.1:c.4185+445_4185+453delinsGTCTCACTT NP_001338224.1:n.4185+445_4185+453delinsGTCTCACTT
NM_001351296.1:c.4119+445_4119+453delinsGTCTCACTT NP_001338225.1:n.4119+445_4119+453delinsGTCTCACTT
NM_001351297.1:c.4116+445_4116+453delinsGTCTCACTT NP_001338226.1:n.4116+445_4116+453delinsGTCTCACTT
NR_147094.1:n.4414+445_4414+453delinsGTCTCACTT
XM_017018197.2:c.4188+445_4188+453delinsGTCTCACTT XP_016873686.1:n.4188+445_4188+453delinsGTCTCACTT
XM_017018199.1:c.4185+445_4185+453delinsGTCTCACTT XP_016873688.1:n.4185+445_4185+453delinsGTCTCACTT
XM_017018201.2:c.4188+445_4188+453delinsGTCTCACTT XP_016873690.1:n.4188+445_4188+453delinsGTCTCACTT
XM_017018202.1:c.2685+445_2685+453delinsGTCTCACTT XP_016873691.1:n.2685+445_2685+453delinsGTCTCACTT
XM_017018204.1:c.2076+445_2076+453delinsGTCTCACTT XP_016873693.1:n.2076+445_2076+453delinsGTCTCACTT
XM_024448668.1:c.2487+445_2487+453delinsGTCTCACTT XP_024304436.1:n.2487+445_2487+453delinsGTCTCACTT
XR_001747945.2:n.4260+445_4260+453delinsGTCTCACTT
XR_001747946.2:n.4191+445_4191+453delinsGTCTCACTT
XR_002957189.1:n.5301_5309delinsGTCTCACTT
NM_000352.6:c.4119+445_4119+453delinsGTCTCACTT MANE Select NP_000343.2:n.4119+445_4119+453delinsGTCTCACTT
NM_001287174.2:c.4122+445_4122+453delinsGTCTCACTT NP_001274103.1:n.4122+445_4122+453delinsGTCTCACTT
NM_001351295.2:c.4185+445_4185+453delinsGTCTCACTT NP_001338224.1:n.4185+445_4185+453delinsGTCTCACTT
NM_001351296.2:c.4119+445_4119+453delinsGTCTCACTT NP_001338225.1:n.4119+445_4119+453delinsGTCTCACTT
NM_001351297.2:c.4116+445_4116+453delinsGTCTCACTT NP_001338226.1:n.4116+445_4116+453delinsGTCTCACTT
NR_147094.2:n.4414+445_4414+453delinsGTCTCACTT
NM_001287174.3:c.4122+445_4122+453delinsGTCTCACTT NP_001274103.1:n.4122+445_4122+453delinsGTCTCACTT