Canonical Allele Identifier: CA1955123622

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396392_17396394delinsCAT , CM000673.2:g.17396392_17396394delinsCAT	GRCh38
NC_000011.9:g.17417939_17417941delinsCAT , CM000673.1:g.17417939_17417941delinsCAT	GRCh37
NC_000011.8:g.17374515_17374517delinsCAT	NCBI36
NG_008867.1:g.85509_85511delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3721-464_3721-462delinsATG
ENST00000528374.2:c.711-464_711-462delinsATG
ENST00000529967.6:n.2459-464_2459-462delinsATG
ENST00000532220.2:n.2889_2891delinsATG
ENST00000642611.2:n.4856_4858delinsATG
ENST00000644057.2:n.563-464_563-462delinsATG
ENST00000645004.2:n.1619-464_1619-462delinsATG
ENST00000682051.1:n.4282-464_4282-462delinsATG
ENST00000682110.1:n.4335-464_4335-462delinsATG
ENST00000682140.1:c.3986-464_3986-462delinsATG	ENSP00000507829.1:n.3986-464_3986-462delinsATG
ENST00000682185.1:n.5425-464_5425-462delinsATG
ENST00000682204.1:c.*2258-464_*2258-462delinsATG	ENSP00000507094.1:n.*2258-464_*2258-462delinsATG
ENST00000682215.1:n.4702-464_4702-462delinsATG
ENST00000682288.1:c.*2551-464_*2551-462delinsATG	ENSP00000507506.1:n.*2551-464_*2551-462delinsATG
ENST00000682442.1:n.4555-464_4555-462delinsATG
ENST00000682528.1:n.4412-464_4412-462delinsATG
ENST00000682673.1:n.4279-464_4279-462delinsATG
ENST00000682805.1:n.4740-464_4740-462delinsATG
ENST00000682965.1:c.*542-464_*542-462delinsATG	ENSP00000508229.1:n.*542-464_*542-462delinsATG
ENST00000683093.1:n.4955_4957delinsATG
ENST00000683136.1:c.4003-464_4003-462delinsATG	ENSP00000507768.1:n.4003-464_4003-462delinsATG
ENST00000683153.1:n.4377-464_4377-462delinsATG
ENST00000683365.1:n.4437-464_4437-462delinsATG
ENST00000683377.1:n.4335-464_4335-462delinsATG
ENST00000683456.1:c.*1257-464_*1257-462delinsATG	ENSP00000508318.1:n.*1257-464_*1257-462delinsATG
ENST00000683522.1:n.4335-464_4335-462delinsATG
ENST00000683562.1:c.*2289-464_*2289-462delinsATG	ENSP00000508265.1:n.*2289-464_*2289-462delinsATG
ENST00000683693.1:n.5303_5305delinsATG
ENST00000683725.1:c.4120-464_4120-462delinsATG	ENSP00000507496.1:n.4120-464_4120-462delinsATG
ENST00000684010.1:n.4330-464_4330-462delinsATG
ENST00000684157.1:n.4856_4858delinsATG
ENST00000684253.1:n.4238-464_4238-462delinsATG
ENST00000684288.1:c.*2292-464_*2292-462delinsATG	ENSP00000507143.1:n.*2292-464_*2292-462delinsATG
ENST00000684313.1:n.3767-464_3767-462delinsATG
ENST00000684332.1:n.4408-464_4408-462delinsATG
ENST00000684371.1:n.4441-464_4441-462delinsATG
ENST00000684404.1:n.4899_4901delinsATG
ENST00000684442.1:n.4559-464_4559-462delinsATG
ENST00000684555.1:c.*2332-464_*2332-462delinsATG	ENSP00000507705.1:n.*2332-464_*2332-462delinsATG
ENST00000684571.1:c.3961-464_3961-462delinsATG	ENSP00000506935.1:n.3961-464_3961-462delinsATG
ENST00000684593.1:c.*3825-464_*3825-462delinsATG	ENSP00000507005.1:n.*3825-464_*3825-462delinsATG
ENST00000684711.1:c.*2516-464_*2516-462delinsATG	ENSP00000506841.1:n.*2516-464_*2516-462delinsATG
ENST00000302539.9:c.4123-464_4123-462delinsATG	ENSP00000303960.4:n.4123-464_4123-462delinsATG
ENST00000389817.8:c.4120-464_4120-462delinsATG MANE Select	ENSP00000374467.4:n.4120-464_4120-462delinsATG
ENST00000642271.1:c.4117-464_4117-462delinsATG	ENSP00000493749.1:n.4117-464_4117-462delinsATG
ENST00000642579.1:c.2174-464_2174-462delinsATG
ENST00000642611.1:n.4741_4743delinsATG
ENST00000642902.1:c.3902-464_3902-462delinsATG
ENST00000643260.1:c.4120-464_4120-462delinsATG	ENSP00000494450.1:n.4120-464_4120-462delinsATG
ENST00000643562.1:c.*2242-464_*2242-462delinsATG	ENSP00000496124.1:n.*2242-464_*2242-462delinsATG
ENST00000643925.1:c.2760-464_2760-462delinsATG
ENST00000644057.1:n.197-464_197-462delinsATG
ENST00000644484.1:c.*3042_*3044delinsATG	ENSP00000493558.1:n.*3042_*3044delinsATG
ENST00000644675.1:c.*2292-464_*2292-462delinsATG	ENSP00000494567.1:n.*2292-464_*2292-462delinsATG
ENST00000644757.1:c.*3072_*3074delinsATG	ENSP00000495085.1:n.*3072_*3074delinsATG
ENST00000644772.1:c.4186-464_4186-462delinsATG	ENSP00000494321.1:n.4186-464_4186-462delinsATG
ENST00000645004.1:n.1813-464_1813-462delinsATG
ENST00000645076.1:c.3319-464_3319-462delinsATG
ENST00000645417.1:c.1308-464_1308-462delinsATG
ENST00000645744.1:c.*3421_*3423delinsATG	ENSP00000494564.1:n.*3421_*3423delinsATG
ENST00000645760.1:c.4541-464_4541-462delinsATG
ENST00000645884.1:c.*1403-464_*1403-462delinsATG	ENSP00000495516.1:n.*1403-464_*1403-462delinsATG
ENST00000646003.1:c.*2222-464_*2222-462delinsATG	ENSP00000495259.1:n.*2222-464_*2222-462delinsATG
ENST00000646207.1:c.*2957-464_*2957-462delinsATG	ENSP00000495025.1:n.*2957-464_*2957-462delinsATG
ENST00000646276.1:c.*3060_*3062delinsATG	ENSP00000496070.1:n.*3060_*3062delinsATG
ENST00000646592.1:c.3426-464_3426-462delinsATG
ENST00000646902.1:c.4087-464_4087-462delinsATG	ENSP00000494101.1:n.4087-464_4087-462delinsATG
ENST00000646993.1:c.*2662-464_*2662-462delinsATG	ENSP00000493720.1:n.*2662-464_*2662-462delinsATG
ENST00000647013.1:c.4126-464_4126-462delinsATG	ENSP00000496741.1:n.4126-464_4126-462delinsATG
ENST00000647015.1:c.3871-464_3871-462delinsATG	ENSP00000495389.1:n.3871-464_3871-462delinsATG
ENST00000647086.1:c.*3706-464_*3706-462delinsATG	ENSP00000493677.1:n.*3706-464_*3706-462delinsATG
ENST00000647158.1:c.*2407-464_*2407-462delinsATG	ENSP00000495744.1:n.*2407-464_*2407-462delinsATG
ENST00000302539.8:c.4123-464_4123-462delinsATG	ENSP00000303960.4:n.4123-464_4123-462delinsATG
ENST00000389817.7:c.4120-464_4120-462delinsATG	ENSP00000374467.3:n.4120-464_4120-462delinsATG
ENST00000528374.1:c.602-464_602-462delinsATG
ENST00000532220.1:n.594-464_594-462delinsATG
NM_000352.4:c.4120-464_4120-462delinsATG	NP_000343.2:n.4120-464_4120-462delinsATG
NM_001287174.1:c.4123-464_4123-462delinsATG	NP_001274103.1:n.4123-464_4123-462delinsATG
XM_011520331.1:c.4120-464_4120-462delinsATG	XP_011518633.1:n.4120-464_4120-462delinsATG
XM_011520332.1:c.4123-464_4123-462delinsATG	XP_011518634.1:n.4123-464_4123-462delinsATG
XM_011520333.1:c.2620-464_2620-462delinsATG	XP_011518635.1:n.2620-464_2620-462delinsATG
XR_930890.1:n.4186-464_4186-462delinsATG
NM_001351295.1:c.4186-464_4186-462delinsATG	NP_001338224.1:n.4186-464_4186-462delinsATG
NM_001351296.1:c.4120-464_4120-462delinsATG	NP_001338225.1:n.4120-464_4120-462delinsATG
NM_001351297.1:c.4117-464_4117-462delinsATG	NP_001338226.1:n.4117-464_4117-462delinsATG
NR_147094.1:n.4415-464_4415-462delinsATG
XM_017018197.2:c.4189-464_4189-462delinsATG	XP_016873686.1:n.4189-464_4189-462delinsATG
XM_017018199.1:c.4186-464_4186-462delinsATG	XP_016873688.1:n.4186-464_4186-462delinsATG
XM_017018201.2:c.4189-464_4189-462delinsATG	XP_016873690.1:n.4189-464_4189-462delinsATG
XM_017018202.1:c.2686-464_2686-462delinsATG	XP_016873691.1:n.2686-464_2686-462delinsATG
XM_017018204.1:c.2077-464_2077-462delinsATG	XP_016873693.1:n.2077-464_2077-462delinsATG
XM_024448668.1:c.2488-464_2488-462delinsATG	XP_024304436.1:n.2488-464_2488-462delinsATG
XR_001747945.2:n.4261-464_4261-462delinsATG
XR_001747946.2:n.4192-464_4192-462delinsATG
XR_002957189.1:n.5378_5380delinsATG
NM_000352.6:c.4120-464_4120-462delinsATG MANE Select	NP_000343.2:n.4120-464_4120-462delinsATG
NM_001287174.2:c.4123-464_4123-462delinsATG	NP_001274103.1:n.4123-464_4123-462delinsATG
NM_001351295.2:c.4186-464_4186-462delinsATG	NP_001338224.1:n.4186-464_4186-462delinsATG
NM_001351296.2:c.4120-464_4120-462delinsATG	NP_001338225.1:n.4120-464_4120-462delinsATG
NM_001351297.2:c.4117-464_4117-462delinsATG	NP_001338226.1:n.4117-464_4117-462delinsATG
NR_147094.2:n.4415-464_4415-462delinsATG
NM_001287174.3:c.4123-464_4123-462delinsATG	NP_001274103.1:n.4123-464_4123-462delinsATG