Canonical Allele Identifier: CA2612641379

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396520-C-CCCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396520_17396521insCCAG , CM000673.2:g.17396520_17396521insCCAG	GRCh38
NC_000011.9:g.17418067_17418068insCCAG , CM000673.1:g.17418067_17418068insCCAG	GRCh37
NC_000011.8:g.17374643_17374644insCCAG	NCBI36
NG_008867.1:g.85382_85383insCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+395_3720+396insCTGG
ENST00000528374.2:c.710+395_710+396insCTGG
ENST00000529967.6:n.2458+395_2458+396insCTGG
ENST00000532220.2:n.2762_2763insCTGG
ENST00000642611.2:n.4729_4730insCTGG
ENST00000644057.2:n.562+395_562+396insCTGG
ENST00000645004.2:n.1618+395_1618+396insCTGG
ENST00000682051.1:n.4281+395_4281+396insCTGG
ENST00000682110.1:n.4334+395_4334+396insCTGG
ENST00000682140.1:c.3986-591_3986-590insCTGG	ENSP00000507829.1:n.3986-591_3986-590insCTGG
ENST00000682185.1:n.5424+395_5424+396insCTGG
ENST00000682204.1:c.*2257+395_*2257+396insCTGG	ENSP00000507094.1:n.*2257+395_*2257+396insCTGG
ENST00000682215.1:n.4701+395_4701+396insCTGG
ENST00000682288.1:c.*2550+395_*2550+396insCTGG	ENSP00000507506.1:n.*2550+395_*2550+396insCTGG
ENST00000682442.1:n.4554+395_4554+396insCTGG
ENST00000682528.1:n.4411+395_4411+396insCTGG
ENST00000682673.1:n.4278+395_4278+396insCTGG
ENST00000682805.1:n.4739+357_4739+358insCTGG
ENST00000682965.1:c.*541+395_*541+396insCTGG	ENSP00000508229.1:n.*541+395_*541+396insCTGG
ENST00000683093.1:n.4828_4829insCTGG
ENST00000683136.1:c.4002+395_4002+396insCTGG	ENSP00000507768.1:n.4002+395_4002+396insCTGG
ENST00000683153.1:n.4376+395_4376+396insCTGG
ENST00000683365.1:n.4436+395_4436+396insCTGG
ENST00000683377.1:n.4334+395_4334+396insCTGG
ENST00000683456.1:c.*1256+395_*1256+396insCTGG	ENSP00000508318.1:n.*1256+395_*1256+396insCTGG
ENST00000683522.1:n.4334+395_4334+396insCTGG
ENST00000683562.1:c.*2288+395_*2288+396insCTGG	ENSP00000508265.1:n.*2288+395_*2288+396insCTGG
ENST00000683693.1:n.5176_5177insCTGG
ENST00000683725.1:c.4119+395_4119+396insCTGG	ENSP00000507496.1:n.4119+395_4119+396insCTGG
ENST00000684010.1:n.4329+395_4329+396insCTGG
ENST00000684157.1:n.4729_4730insCTGG
ENST00000684253.1:n.4237+395_4237+396insCTGG
ENST00000684288.1:c.*2291+395_*2291+396insCTGG	ENSP00000507143.1:n.*2291+395_*2291+396insCTGG
ENST00000684313.1:n.3766+395_3766+396insCTGG
ENST00000684332.1:n.4407+395_4407+396insCTGG
ENST00000684371.1:n.4440+395_4440+396insCTGG
ENST00000684404.1:n.4772_4773insCTGG
ENST00000684442.1:n.4558+395_4558+396insCTGG
ENST00000684555.1:c.*2331+395_*2331+396insCTGG	ENSP00000507705.1:n.*2331+395_*2331+396insCTGG
ENST00000684571.1:c.3960+395_3960+396insCTGG	ENSP00000506935.1:n.3960+395_3960+396insCTGG
ENST00000684593.1:c.*3824+395_*3824+396insCTGG	ENSP00000507005.1:n.*3824+395_*3824+396insCTGG
ENST00000684711.1:c.*2515+395_*2515+396insCTGG	ENSP00000506841.1:n.*2515+395_*2515+396insCTGG
ENST00000302539.9:c.4122+395_4122+396insCTGG	ENSP00000303960.4:n.4122+395_4122+396insCTGG
ENST00000389817.8:c.4119+395_4119+396insCTGG MANE Select	ENSP00000374467.4:n.4119+395_4119+396insCTGG
ENST00000642271.1:c.4116+395_4116+396insCTGG	ENSP00000493749.1:n.4116+395_4116+396insCTGG
ENST00000642579.1:c.2173+395_2173+396insCTGG
ENST00000642611.1:n.4614_4615insCTGG
ENST00000642902.1:c.3901+395_3901+396insCTGG
ENST00000643260.1:c.4119+395_4119+396insCTGG	ENSP00000494450.1:n.4119+395_4119+396insCTGG
ENST00000643562.1:c.*2241+395_*2241+396insCTGG	ENSP00000496124.1:n.*2241+395_*2241+396insCTGG
ENST00000643925.1:c.2759+395_2759+396insCTGG
ENST00000644057.1:n.196+395_196+396insCTGG
ENST00000644484.1:c.*2915_*2916insCTGG	ENSP00000493558.1:n.*2915_*2916insCTGG
ENST00000644675.1:c.*2291+395_*2291+396insCTGG	ENSP00000494567.1:n.*2291+395_*2291+396insCTGG
ENST00000644757.1:c.*2945_*2946insCTGG	ENSP00000495085.1:n.*2945_*2946insCTGG
ENST00000644772.1:c.4185+395_4185+396insCTGG	ENSP00000494321.1:n.4185+395_4185+396insCTGG
ENST00000645004.1:n.1812+357_1812+358insCTGG
ENST00000645076.1:c.3318+395_3318+396insCTGG
ENST00000645417.1:c.1307+395_1307+396insCTGG
ENST00000645744.1:c.*3294_*3295insCTGG	ENSP00000494564.1:n.*3294_*3295insCTGG
ENST00000645760.1:c.4540+395_4540+396insCTGG
ENST00000645884.1:c.*1402+395_*1402+396insCTGG	ENSP00000495516.1:n.*1402+395_*1402+396insCTGG
ENST00000646003.1:c.*2221+395_*2221+396insCTGG	ENSP00000495259.1:n.*2221+395_*2221+396insCTGG
ENST00000646207.1:c.*2956+395_*2956+396insCTGG	ENSP00000495025.1:n.*2956+395_*2956+396insCTGG
ENST00000646276.1:c.*2933_*2934insCTGG	ENSP00000496070.1:n.*2933_*2934insCTGG
ENST00000646592.1:c.3425+395_3425+396insCTGG
ENST00000646902.1:c.4086+395_4086+396insCTGG	ENSP00000494101.1:n.4086+395_4086+396insCTGG
ENST00000646993.1:c.*2661+395_*2661+396insCTGG	ENSP00000493720.1:n.*2661+395_*2661+396insCTGG
ENST00000647013.1:c.4125+395_4125+396insCTGG	ENSP00000496741.1:n.4125+395_4125+396insCTGG
ENST00000647015.1:c.3870+395_3870+396insCTGG	ENSP00000495389.1:n.3870+395_3870+396insCTGG
ENST00000647086.1:c.*3705+395_*3705+396insCTGG	ENSP00000493677.1:n.*3705+395_*3705+396insCTGG
ENST00000647158.1:c.*2406+395_*2406+396insCTGG	ENSP00000495744.1:n.*2406+395_*2406+396insCTGG
ENST00000302539.8:c.4122+395_4122+396insCTGG	ENSP00000303960.4:n.4122+395_4122+396insCTGG
ENST00000389817.7:c.4119+395_4119+396insCTGG	ENSP00000374467.3:n.4119+395_4119+396insCTGG
ENST00000528374.1:c.601+395_601+396insCTGG
ENST00000532220.1:n.593+395_593+396insCTGG
NM_000352.4:c.4119+395_4119+396insCTGG	NP_000343.2:n.4119+395_4119+396insCTGG
NM_001287174.1:c.4122+395_4122+396insCTGG	NP_001274103.1:n.4122+395_4122+396insCTGG
XM_011520331.1:c.4119+395_4119+396insCTGG	XP_011518633.1:n.4119+395_4119+396insCTGG
XM_011520332.1:c.4122+395_4122+396insCTGG	XP_011518634.1:n.4122+395_4122+396insCTGG
XM_011520333.1:c.2619+395_2619+396insCTGG	XP_011518635.1:n.2619+395_2619+396insCTGG
XR_930890.1:n.4185+395_4185+396insCTGG
NM_001351295.1:c.4185+395_4185+396insCTGG	NP_001338224.1:n.4185+395_4185+396insCTGG
NM_001351296.1:c.4119+395_4119+396insCTGG	NP_001338225.1:n.4119+395_4119+396insCTGG
NM_001351297.1:c.4116+395_4116+396insCTGG	NP_001338226.1:n.4116+395_4116+396insCTGG
NR_147094.1:n.4414+395_4414+396insCTGG
XM_017018197.2:c.4188+395_4188+396insCTGG	XP_016873686.1:n.4188+395_4188+396insCTGG
XM_017018199.1:c.4185+395_4185+396insCTGG	XP_016873688.1:n.4185+395_4185+396insCTGG
XM_017018201.2:c.4188+395_4188+396insCTGG	XP_016873690.1:n.4188+395_4188+396insCTGG
XM_017018202.1:c.2685+395_2685+396insCTGG	XP_016873691.1:n.2685+395_2685+396insCTGG
XM_017018204.1:c.2076+395_2076+396insCTGG	XP_016873693.1:n.2076+395_2076+396insCTGG
XM_024448668.1:c.2487+395_2487+396insCTGG	XP_024304436.1:n.2487+395_2487+396insCTGG
XR_001747945.2:n.4260+395_4260+396insCTGG
XR_001747946.2:n.4191+395_4191+396insCTGG
XR_002957189.1:n.5251_5252insCTGG
NM_000352.6:c.4119+395_4119+396insCTGG MANE Select	NP_000343.2:n.4119+395_4119+396insCTGG
NM_001287174.2:c.4122+395_4122+396insCTGG	NP_001274103.1:n.4122+395_4122+396insCTGG
NM_001351295.2:c.4185+395_4185+396insCTGG	NP_001338224.1:n.4185+395_4185+396insCTGG
NM_001351296.2:c.4119+395_4119+396insCTGG	NP_001338225.1:n.4119+395_4119+396insCTGG
NM_001351297.2:c.4116+395_4116+396insCTGG	NP_001338226.1:n.4116+395_4116+396insCTGG
NR_147094.2:n.4414+395_4414+396insCTGG
NM_001287174.3:c.4122+395_4122+396insCTGG	NP_001274103.1:n.4122+395_4122+396insCTGG