Canonical Allele Identifier: CA1955123618

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396382_17396386delinsCAGAT , CM000673.2:g.17396382_17396386delinsCAGAT	GRCh38
NC_000011.9:g.17417929_17417933delinsCAGAT , CM000673.1:g.17417929_17417933delinsCAGAT	GRCh37
NC_000011.8:g.17374505_17374509delinsCAGAT	NCBI36
NG_008867.1:g.85517_85521delinsATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3721-456_3721-452delinsATCTG
ENST00000528374.2:c.711-456_711-452delinsATCTG
ENST00000529967.6:n.2459-456_2459-452delinsATCTG
ENST00000532220.2:n.2897_2901delinsATCTG
ENST00000642611.2:n.4864_4868delinsATCTG
ENST00000644057.2:n.563-456_563-452delinsATCTG
ENST00000645004.2:n.1619-456_1619-452delinsATCTG
ENST00000682051.1:n.4282-456_4282-452delinsATCTG
ENST00000682110.1:n.4335-456_4335-452delinsATCTG
ENST00000682140.1:c.3986-456_3986-452delinsATCTG	ENSP00000507829.1:n.3986-456_3986-452delinsATCTG
ENST00000682185.1:n.5425-456_5425-452delinsATCTG
ENST00000682204.1:c.*2258-456_*2258-452delinsATCTG	ENSP00000507094.1:n.*2258-456_*2258-452delinsATCTG
ENST00000682215.1:n.4702-456_4702-452delinsATCTG
ENST00000682288.1:c.*2551-456_*2551-452delinsATCTG	ENSP00000507506.1:n.*2551-456_*2551-452delinsATCTG
ENST00000682442.1:n.4555-456_4555-452delinsATCTG
ENST00000682528.1:n.4412-456_4412-452delinsATCTG
ENST00000682673.1:n.4279-456_4279-452delinsATCTG
ENST00000682805.1:n.4740-456_4740-452delinsATCTG
ENST00000682965.1:c.*542-456_*542-452delinsATCTG	ENSP00000508229.1:n.*542-456_*542-452delinsATCTG
ENST00000683093.1:n.4963_4967delinsATCTG
ENST00000683136.1:c.4003-456_4003-452delinsATCTG	ENSP00000507768.1:n.4003-456_4003-452delinsATCTG
ENST00000683153.1:n.4377-456_4377-452delinsATCTG
ENST00000683365.1:n.4437-456_4437-452delinsATCTG
ENST00000683377.1:n.4335-456_4335-452delinsATCTG
ENST00000683456.1:c.*1257-456_*1257-452delinsATCTG	ENSP00000508318.1:n.*1257-456_*1257-452delinsATCTG
ENST00000683522.1:n.4335-456_4335-452delinsATCTG
ENST00000683562.1:c.*2289-456_*2289-452delinsATCTG	ENSP00000508265.1:n.*2289-456_*2289-452delinsATCTG
ENST00000683693.1:n.5311_5315delinsATCTG
ENST00000683725.1:c.4120-456_4120-452delinsATCTG	ENSP00000507496.1:n.4120-456_4120-452delinsATCTG
ENST00000684010.1:n.4330-456_4330-452delinsATCTG
ENST00000684157.1:n.4864_4868delinsATCTG
ENST00000684253.1:n.4238-456_4238-452delinsATCTG
ENST00000684288.1:c.*2292-456_*2292-452delinsATCTG	ENSP00000507143.1:n.*2292-456_*2292-452delinsATCTG
ENST00000684313.1:n.3767-456_3767-452delinsATCTG
ENST00000684332.1:n.4408-456_4408-452delinsATCTG
ENST00000684371.1:n.4441-456_4441-452delinsATCTG
ENST00000684404.1:n.4907_4911delinsATCTG
ENST00000684442.1:n.4559-456_4559-452delinsATCTG
ENST00000684555.1:c.*2332-456_*2332-452delinsATCTG	ENSP00000507705.1:n.*2332-456_*2332-452delinsATCTG
ENST00000684571.1:c.3961-456_3961-452delinsATCTG	ENSP00000506935.1:n.3961-456_3961-452delinsATCTG
ENST00000684593.1:c.*3825-456_*3825-452delinsATCTG	ENSP00000507005.1:n.*3825-456_*3825-452delinsATCTG
ENST00000684711.1:c.*2516-456_*2516-452delinsATCTG	ENSP00000506841.1:n.*2516-456_*2516-452delinsATCTG
ENST00000302539.9:c.4123-456_4123-452delinsATCTG	ENSP00000303960.4:n.4123-456_4123-452delinsATCTG
ENST00000389817.8:c.4120-456_4120-452delinsATCTG MANE Select	ENSP00000374467.4:n.4120-456_4120-452delinsATCTG
ENST00000642271.1:c.4117-456_4117-452delinsATCTG	ENSP00000493749.1:n.4117-456_4117-452delinsATCTG
ENST00000642579.1:c.2174-456_2174-452delinsATCTG
ENST00000642611.1:n.4749_4753delinsATCTG
ENST00000642902.1:c.3902-456_3902-452delinsATCTG
ENST00000643260.1:c.4120-456_4120-452delinsATCTG	ENSP00000494450.1:n.4120-456_4120-452delinsATCTG
ENST00000643562.1:c.*2242-456_*2242-452delinsATCTG	ENSP00000496124.1:n.*2242-456_*2242-452delinsATCTG
ENST00000643925.1:c.2760-456_2760-452delinsATCTG
ENST00000644057.1:n.197-456_197-452delinsATCTG
ENST00000644484.1:c.*3050_*3054delinsATCTG	ENSP00000493558.1:n.*3050_*3054delinsATCTG
ENST00000644675.1:c.*2292-456_*2292-452delinsATCTG	ENSP00000494567.1:n.*2292-456_*2292-452delinsATCTG
ENST00000644757.1:c.*3080_*3084delinsATCTG	ENSP00000495085.1:n.*3080_*3084delinsATCTG
ENST00000644772.1:c.4186-456_4186-452delinsATCTG	ENSP00000494321.1:n.4186-456_4186-452delinsATCTG
ENST00000645004.1:n.1813-456_1813-452delinsATCTG
ENST00000645076.1:c.3319-456_3319-452delinsATCTG
ENST00000645417.1:c.1308-456_1308-452delinsATCTG
ENST00000645744.1:c.*3429_*3433delinsATCTG	ENSP00000494564.1:n.*3429_*3433delinsATCTG
ENST00000645760.1:c.4541-456_4541-452delinsATCTG
ENST00000645884.1:c.*1403-456_*1403-452delinsATCTG	ENSP00000495516.1:n.*1403-456_*1403-452delinsATCTG
ENST00000646003.1:c.*2222-456_*2222-452delinsATCTG	ENSP00000495259.1:n.*2222-456_*2222-452delinsATCTG
ENST00000646207.1:c.*2957-456_*2957-452delinsATCTG	ENSP00000495025.1:n.*2957-456_*2957-452delinsATCTG
ENST00000646276.1:c.*3068_*3072delinsATCTG	ENSP00000496070.1:n.*3068_*3072delinsATCTG
ENST00000646592.1:c.3426-456_3426-452delinsATCTG
ENST00000646902.1:c.4087-456_4087-452delinsATCTG	ENSP00000494101.1:n.4087-456_4087-452delinsATCTG
ENST00000646993.1:c.*2662-456_*2662-452delinsATCTG	ENSP00000493720.1:n.*2662-456_*2662-452delinsATCTG
ENST00000647013.1:c.4126-456_4126-452delinsATCTG	ENSP00000496741.1:n.4126-456_4126-452delinsATCTG
ENST00000647015.1:c.3871-456_3871-452delinsATCTG	ENSP00000495389.1:n.3871-456_3871-452delinsATCTG
ENST00000647086.1:c.*3706-456_*3706-452delinsATCTG	ENSP00000493677.1:n.*3706-456_*3706-452delinsATCTG
ENST00000647158.1:c.*2407-456_*2407-452delinsATCTG	ENSP00000495744.1:n.*2407-456_*2407-452delinsATCTG
ENST00000302539.8:c.4123-456_4123-452delinsATCTG	ENSP00000303960.4:n.4123-456_4123-452delinsATCTG
ENST00000389817.7:c.4120-456_4120-452delinsATCTG	ENSP00000374467.3:n.4120-456_4120-452delinsATCTG
ENST00000528374.1:c.602-456_602-452delinsATCTG
ENST00000532220.1:n.594-456_594-452delinsATCTG
NM_000352.4:c.4120-456_4120-452delinsATCTG	NP_000343.2:n.4120-456_4120-452delinsATCTG
NM_001287174.1:c.4123-456_4123-452delinsATCTG	NP_001274103.1:n.4123-456_4123-452delinsATCTG
XM_011520331.1:c.4120-456_4120-452delinsATCTG	XP_011518633.1:n.4120-456_4120-452delinsATCTG
XM_011520332.1:c.4123-456_4123-452delinsATCTG	XP_011518634.1:n.4123-456_4123-452delinsATCTG
XM_011520333.1:c.2620-456_2620-452delinsATCTG	XP_011518635.1:n.2620-456_2620-452delinsATCTG
XR_930890.1:n.4186-456_4186-452delinsATCTG
NM_001351295.1:c.4186-456_4186-452delinsATCTG	NP_001338224.1:n.4186-456_4186-452delinsATCTG
NM_001351296.1:c.4120-456_4120-452delinsATCTG	NP_001338225.1:n.4120-456_4120-452delinsATCTG
NM_001351297.1:c.4117-456_4117-452delinsATCTG	NP_001338226.1:n.4117-456_4117-452delinsATCTG
NR_147094.1:n.4415-456_4415-452delinsATCTG
XM_017018197.2:c.4189-456_4189-452delinsATCTG	XP_016873686.1:n.4189-456_4189-452delinsATCTG
XM_017018199.1:c.4186-456_4186-452delinsATCTG	XP_016873688.1:n.4186-456_4186-452delinsATCTG
XM_017018201.2:c.4189-456_4189-452delinsATCTG	XP_016873690.1:n.4189-456_4189-452delinsATCTG
XM_017018202.1:c.2686-456_2686-452delinsATCTG	XP_016873691.1:n.2686-456_2686-452delinsATCTG
XM_017018204.1:c.2077-456_2077-452delinsATCTG	XP_016873693.1:n.2077-456_2077-452delinsATCTG
XM_024448668.1:c.2488-456_2488-452delinsATCTG	XP_024304436.1:n.2488-456_2488-452delinsATCTG
XR_001747945.2:n.4261-456_4261-452delinsATCTG
XR_001747946.2:n.4192-456_4192-452delinsATCTG
XR_002957189.1:n.5386_5390delinsATCTG
NM_000352.6:c.4120-456_4120-452delinsATCTG MANE Select	NP_000343.2:n.4120-456_4120-452delinsATCTG
NM_001287174.2:c.4123-456_4123-452delinsATCTG	NP_001274103.1:n.4123-456_4123-452delinsATCTG
NM_001351295.2:c.4186-456_4186-452delinsATCTG	NP_001338224.1:n.4186-456_4186-452delinsATCTG
NM_001351296.2:c.4120-456_4120-452delinsATCTG	NP_001338225.1:n.4120-456_4120-452delinsATCTG
NM_001351297.2:c.4117-456_4117-452delinsATCTG	NP_001338226.1:n.4117-456_4117-452delinsATCTG
NR_147094.2:n.4415-456_4415-452delinsATCTG
NM_001287174.3:c.4123-456_4123-452delinsATCTG	NP_001274103.1:n.4123-456_4123-452delinsATCTG