Canonical Allele Identifier: CA1955123671

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396497_17396502delinsCGAGAG , CM000673.2:g.17396497_17396502delinsCGAGAG	GRCh38
NC_000011.9:g.17418044_17418049delinsCGAGAG , CM000673.1:g.17418044_17418049delinsCGAGAG	GRCh37
NC_000011.8:g.17374620_17374625delinsCGAGAG	NCBI36
NG_008867.1:g.85401_85406delinsCTCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+414_3720+419delinsCTCTCG
ENST00000528374.2:c.710+414_710+419delinsCTCTCG
ENST00000529967.6:n.2458+414_2458+419delinsCTCTCG
ENST00000532220.2:n.2781_2786delinsCTCTCG
ENST00000642611.2:n.4748_4753delinsCTCTCG
ENST00000644057.2:n.562+414_562+419delinsCTCTCG
ENST00000645004.2:n.1618+414_1618+419delinsCTCTCG
ENST00000682051.1:n.4281+414_4281+419delinsCTCTCG
ENST00000682110.1:n.4334+414_4334+419delinsCTCTCG
ENST00000682140.1:c.3986-572_3986-567delinsCTCTCG	ENSP00000507829.1:n.3986-572_3986-567delinsCTCTCG
ENST00000682185.1:n.5424+414_5424+419delinsCTCTCG
ENST00000682204.1:c.*2257+414_*2257+419delinsCTCTCG	ENSP00000507094.1:n.*2257+414_*2257+419delinsCTCTCG
ENST00000682215.1:n.4701+414_4701+419delinsCTCTCG
ENST00000682288.1:c.*2550+414_*2550+419delinsCTCTCG	ENSP00000507506.1:n.*2550+414_*2550+419delinsCTCTCG
ENST00000682442.1:n.4554+414_4554+419delinsCTCTCG
ENST00000682528.1:n.4411+414_4411+419delinsCTCTCG
ENST00000682673.1:n.4278+414_4278+419delinsCTCTCG
ENST00000682805.1:n.4739+376_4739+381delinsCTCTCG
ENST00000682965.1:c.*541+414_*541+419delinsCTCTCG	ENSP00000508229.1:n.*541+414_*541+419delinsCTCTCG
ENST00000683093.1:n.4847_4852delinsCTCTCG
ENST00000683136.1:c.4002+414_4002+419delinsCTCTCG	ENSP00000507768.1:n.4002+414_4002+419delinsCTCTCG
ENST00000683153.1:n.4376+414_4376+419delinsCTCTCG
ENST00000683365.1:n.4436+414_4436+419delinsCTCTCG
ENST00000683377.1:n.4334+414_4334+419delinsCTCTCG
ENST00000683456.1:c.*1256+414_*1256+419delinsCTCTCG	ENSP00000508318.1:n.*1256+414_*1256+419delinsCTCTCG
ENST00000683522.1:n.4334+414_4334+419delinsCTCTCG
ENST00000683562.1:c.*2288+414_*2288+419delinsCTCTCG	ENSP00000508265.1:n.*2288+414_*2288+419delinsCTCTCG
ENST00000683693.1:n.5195_5200delinsCTCTCG
ENST00000683725.1:c.4119+414_4119+419delinsCTCTCG	ENSP00000507496.1:n.4119+414_4119+419delinsCTCTCG
ENST00000684010.1:n.4329+414_4329+419delinsCTCTCG
ENST00000684157.1:n.4748_4753delinsCTCTCG
ENST00000684253.1:n.4237+414_4237+419delinsCTCTCG
ENST00000684288.1:c.*2291+414_*2291+419delinsCTCTCG	ENSP00000507143.1:n.*2291+414_*2291+419delinsCTCTCG
ENST00000684313.1:n.3766+414_3766+419delinsCTCTCG
ENST00000684332.1:n.4407+414_4407+419delinsCTCTCG
ENST00000684371.1:n.4440+414_4440+419delinsCTCTCG
ENST00000684404.1:n.4791_4796delinsCTCTCG
ENST00000684442.1:n.4558+414_4558+419delinsCTCTCG
ENST00000684555.1:c.*2331+414_*2331+419delinsCTCTCG	ENSP00000507705.1:n.*2331+414_*2331+419delinsCTCTCG
ENST00000684571.1:c.3960+414_3960+419delinsCTCTCG	ENSP00000506935.1:n.3960+414_3960+419delinsCTCTCG
ENST00000684593.1:c.*3824+414_*3824+419delinsCTCTCG	ENSP00000507005.1:n.*3824+414_*3824+419delinsCTCTCG
ENST00000684711.1:c.*2515+414_*2515+419delinsCTCTCG	ENSP00000506841.1:n.*2515+414_*2515+419delinsCTCTCG
ENST00000302539.9:c.4122+414_4122+419delinsCTCTCG	ENSP00000303960.4:n.4122+414_4122+419delinsCTCTCG
ENST00000389817.8:c.4119+414_4119+419delinsCTCTCG MANE Select	ENSP00000374467.4:n.4119+414_4119+419delinsCTCTCG
ENST00000642271.1:c.4116+414_4116+419delinsCTCTCG	ENSP00000493749.1:n.4116+414_4116+419delinsCTCTCG
ENST00000642579.1:c.2173+414_2173+419delinsCTCTCG
ENST00000642611.1:n.4633_4638delinsCTCTCG
ENST00000642902.1:c.3901+414_3901+419delinsCTCTCG
ENST00000643260.1:c.4119+414_4119+419delinsCTCTCG	ENSP00000494450.1:n.4119+414_4119+419delinsCTCTCG
ENST00000643562.1:c.*2241+414_*2241+419delinsCTCTCG	ENSP00000496124.1:n.*2241+414_*2241+419delinsCTCTCG
ENST00000643925.1:c.2759+414_2759+419delinsCTCTCG
ENST00000644057.1:n.196+414_196+419delinsCTCTCG
ENST00000644484.1:c.*2934_*2939delinsCTCTCG	ENSP00000493558.1:n.*2934_*2939delinsCTCTCG
ENST00000644675.1:c.*2291+414_*2291+419delinsCTCTCG	ENSP00000494567.1:n.*2291+414_*2291+419delinsCTCTCG
ENST00000644757.1:c.*2964_*2969delinsCTCTCG	ENSP00000495085.1:n.*2964_*2969delinsCTCTCG
ENST00000644772.1:c.4185+414_4185+419delinsCTCTCG	ENSP00000494321.1:n.4185+414_4185+419delinsCTCTCG
ENST00000645004.1:n.1812+376_1812+381delinsCTCTCG
ENST00000645076.1:c.3318+414_3318+419delinsCTCTCG
ENST00000645417.1:c.1307+414_1307+419delinsCTCTCG
ENST00000645744.1:c.*3313_*3318delinsCTCTCG	ENSP00000494564.1:n.*3313_*3318delinsCTCTCG
ENST00000645760.1:c.4540+414_4540+419delinsCTCTCG
ENST00000645884.1:c.*1402+414_*1402+419delinsCTCTCG	ENSP00000495516.1:n.*1402+414_*1402+419delinsCTCTCG
ENST00000646003.1:c.*2221+414_*2221+419delinsCTCTCG	ENSP00000495259.1:n.*2221+414_*2221+419delinsCTCTCG
ENST00000646207.1:c.*2956+414_*2956+419delinsCTCTCG	ENSP00000495025.1:n.*2956+414_*2956+419delinsCTCTCG
ENST00000646276.1:c.*2952_*2957delinsCTCTCG	ENSP00000496070.1:n.*2952_*2957delinsCTCTCG
ENST00000646592.1:c.3425+414_3425+419delinsCTCTCG
ENST00000646902.1:c.4086+414_4086+419delinsCTCTCG	ENSP00000494101.1:n.4086+414_4086+419delinsCTCTCG
ENST00000646993.1:c.*2661+414_*2661+419delinsCTCTCG	ENSP00000493720.1:n.*2661+414_*2661+419delinsCTCTCG
ENST00000647013.1:c.4125+414_4125+419delinsCTCTCG	ENSP00000496741.1:n.4125+414_4125+419delinsCTCTCG
ENST00000647015.1:c.3870+414_3870+419delinsCTCTCG	ENSP00000495389.1:n.3870+414_3870+419delinsCTCTCG
ENST00000647086.1:c.*3705+414_*3705+419delinsCTCTCG	ENSP00000493677.1:n.*3705+414_*3705+419delinsCTCTCG
ENST00000647158.1:c.*2406+414_*2406+419delinsCTCTCG	ENSP00000495744.1:n.*2406+414_*2406+419delinsCTCTCG
ENST00000302539.8:c.4122+414_4122+419delinsCTCTCG	ENSP00000303960.4:n.4122+414_4122+419delinsCTCTCG
ENST00000389817.7:c.4119+414_4119+419delinsCTCTCG	ENSP00000374467.3:n.4119+414_4119+419delinsCTCTCG
ENST00000528374.1:c.601+414_601+419delinsCTCTCG
ENST00000532220.1:n.593+414_593+419delinsCTCTCG
NM_000352.4:c.4119+414_4119+419delinsCTCTCG	NP_000343.2:n.4119+414_4119+419delinsCTCTCG
NM_001287174.1:c.4122+414_4122+419delinsCTCTCG	NP_001274103.1:n.4122+414_4122+419delinsCTCTCG
XM_011520331.1:c.4119+414_4119+419delinsCTCTCG	XP_011518633.1:n.4119+414_4119+419delinsCTCTCG
XM_011520332.1:c.4122+414_4122+419delinsCTCTCG	XP_011518634.1:n.4122+414_4122+419delinsCTCTCG
XM_011520333.1:c.2619+414_2619+419delinsCTCTCG	XP_011518635.1:n.2619+414_2619+419delinsCTCTCG
XR_930890.1:n.4185+414_4185+419delinsCTCTCG
NM_001351295.1:c.4185+414_4185+419delinsCTCTCG	NP_001338224.1:n.4185+414_4185+419delinsCTCTCG
NM_001351296.1:c.4119+414_4119+419delinsCTCTCG	NP_001338225.1:n.4119+414_4119+419delinsCTCTCG
NM_001351297.1:c.4116+414_4116+419delinsCTCTCG	NP_001338226.1:n.4116+414_4116+419delinsCTCTCG
NR_147094.1:n.4414+414_4414+419delinsCTCTCG
XM_017018197.2:c.4188+414_4188+419delinsCTCTCG	XP_016873686.1:n.4188+414_4188+419delinsCTCTCG
XM_017018199.1:c.4185+414_4185+419delinsCTCTCG	XP_016873688.1:n.4185+414_4185+419delinsCTCTCG
XM_017018201.2:c.4188+414_4188+419delinsCTCTCG	XP_016873690.1:n.4188+414_4188+419delinsCTCTCG
XM_017018202.1:c.2685+414_2685+419delinsCTCTCG	XP_016873691.1:n.2685+414_2685+419delinsCTCTCG
XM_017018204.1:c.2076+414_2076+419delinsCTCTCG	XP_016873693.1:n.2076+414_2076+419delinsCTCTCG
XM_024448668.1:c.2487+414_2487+419delinsCTCTCG	XP_024304436.1:n.2487+414_2487+419delinsCTCTCG
XR_001747945.2:n.4260+414_4260+419delinsCTCTCG
XR_001747946.2:n.4191+414_4191+419delinsCTCTCG
XR_002957189.1:n.5270_5275delinsCTCTCG
NM_000352.6:c.4119+414_4119+419delinsCTCTCG MANE Select	NP_000343.2:n.4119+414_4119+419delinsCTCTCG
NM_001287174.2:c.4122+414_4122+419delinsCTCTCG	NP_001274103.1:n.4122+414_4122+419delinsCTCTCG
NM_001351295.2:c.4185+414_4185+419delinsCTCTCG	NP_001338224.1:n.4185+414_4185+419delinsCTCTCG
NM_001351296.2:c.4119+414_4119+419delinsCTCTCG	NP_001338225.1:n.4119+414_4119+419delinsCTCTCG
NM_001351297.2:c.4116+414_4116+419delinsCTCTCG	NP_001338226.1:n.4116+414_4116+419delinsCTCTCG
NR_147094.2:n.4414+414_4414+419delinsCTCTCG
NM_001287174.3:c.4122+414_4122+419delinsCTCTCG	NP_001274103.1:n.4122+414_4122+419delinsCTCTCG