Canonical Allele Identifier: CA2574768535

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408574_17408575del , CM000673.2:g.17408574_17408575del	GRCh38
NC_000011.9:g.17430121_17430122del , CM000673.1:g.17430121_17430122del	GRCh37
NC_000011.8:g.17386697_17386698del	NCBI36
NG_008867.1:g.73330_73331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2364-56_2364-55del
ENST00000529967.6:n.954-56_954-55del
ENST00000532220.2:n.371_372del
ENST00000642611.2:n.2764-56_2764-55del
ENST00000682051.1:n.2711-56_2711-55del
ENST00000682110.1:n.2764-56_2764-55del
ENST00000682140.1:c.2692-56_2692-55del	ENSP00000507829.1:n.2692-56_2692-55del
ENST00000682185.1:n.4000-56_4000-55del
ENST00000682204.1:c.*833-56_*833-55del	ENSP00000507094.1:n.*833-56_*833-55del
ENST00000682215.1:n.2761-56_2761-55del
ENST00000682288.1:c.*1126-56_*1126-55del	ENSP00000507506.1:n.*1126-56_*1126-55del
ENST00000682442.1:n.2885-56_2885-55del
ENST00000682528.1:n.2761-56_2761-55del
ENST00000682673.1:n.2708-56_2708-55del
ENST00000682805.1:n.2761-56_2761-55del
ENST00000682965.1:c.2692-56_2692-55del	ENSP00000508229.1:n.2692-56_2692-55del
ENST00000683093.1:n.2863-56_2863-55del
ENST00000683136.1:c.2692-56_2692-55del	ENSP00000507768.1:n.2692-56_2692-55del
ENST00000683153.1:n.2920-56_2920-55del
ENST00000683365.1:n.2866-56_2866-55del
ENST00000683377.1:n.2764-56_2764-55del
ENST00000683456.1:c.2695-56_2695-55del	ENSP00000508318.1:n.2695-56_2695-55del
ENST00000683522.1:n.2764-56_2764-55del
ENST00000683562.1:c.*864-56_*864-55del	ENSP00000508265.1:n.*864-56_*864-55del
ENST00000683693.1:n.2761-56_2761-55del
ENST00000683725.1:c.2695-56_2695-55del	ENSP00000507496.1:n.2695-56_2695-55del
ENST00000684010.1:n.2679-56_2679-55del
ENST00000684157.1:n.2764-56_2764-55del
ENST00000684253.1:n.2667-56_2667-55del
ENST00000684288.1:c.*867-56_*867-55del	ENSP00000507143.1:n.*867-56_*867-55del
ENST00000684313.1:n.2196-56_2196-55del
ENST00000684332.1:n.2837-56_2837-55del
ENST00000684371.1:n.2870-56_2870-55del
ENST00000684404.1:n.2761-56_2761-55del
ENST00000684442.1:n.2764-56_2764-55del
ENST00000684555.1:c.*907-56_*907-55del	ENSP00000507705.1:n.*907-56_*907-55del
ENST00000684571.1:c.2536-56_2536-55del	ENSP00000506935.1:n.2536-56_2536-55del
ENST00000684593.1:c.*2400-56_*2400-55del	ENSP00000507005.1:n.*2400-56_*2400-55del
ENST00000684711.1:c.*1091-56_*1091-55del	ENSP00000506841.1:n.*1091-56_*1091-55del
ENST00000302539.9:c.2698-56_2698-55del	ENSP00000303960.4:n.2698-56_2698-55del
ENST00000389817.8:c.2695-56_2695-55del MANE Select	ENSP00000374467.4:n.2695-56_2695-55del
ENST00000642271.1:c.2692-56_2692-55del	ENSP00000493749.1:n.2692-56_2692-55del
ENST00000642579.1:c.779-56_779-55del
ENST00000642611.1:n.2649-56_2649-55del
ENST00000642902.1:c.2530-56_2530-55del
ENST00000643260.1:c.2695-56_2695-55del	ENSP00000494450.1:n.2695-56_2695-55del
ENST00000643562.1:c.*671-56_*671-55del	ENSP00000496124.1:n.*671-56_*671-55del
ENST00000643925.1:c.739-56_739-55del
ENST00000644447.1:c.1051-56_1051-55del	ENSP00000496282.1:n.1051-56_1051-55del
ENST00000644472.1:c.*1056-56_*1056-55del	ENSP00000495378.1:n.*1056-56_*1056-55del
ENST00000644484.1:c.*904-56_*904-55del	ENSP00000493558.1:n.*904-56_*904-55del
ENST00000644542.1:c.*2400-56_*2400-55del	ENSP00000495532.1:n.*2400-56_*2400-55del
ENST00000644675.1:c.*867-56_*867-55del	ENSP00000494567.1:n.*867-56_*867-55del
ENST00000644757.1:c.*1000-56_*1000-55del	ENSP00000495085.1:n.*1000-56_*1000-55del
ENST00000644772.1:c.2761-56_2761-55del	ENSP00000494321.1:n.2761-56_2761-55del
ENST00000645076.1:c.1947-56_1947-55del
ENST00000645744.1:c.*1059-56_*1059-55del	ENSP00000494564.1:n.*1059-56_*1059-55del
ENST00000645760.1:c.2970-56_2970-55del
ENST00000645884.1:c.2695-56_2695-55del	ENSP00000495516.1:n.2695-56_2695-55del
ENST00000646003.1:c.*751-56_*751-55del	ENSP00000495259.1:n.*751-56_*751-55del
ENST00000646207.1:c.*1059-56_*1059-55del	ENSP00000495025.1:n.*1059-56_*1059-55del
ENST00000646276.1:c.*968-56_*968-55del	ENSP00000496070.1:n.*968-56_*968-55del
ENST00000646592.1:c.1921-56_1921-55del
ENST00000646902.1:c.2692-56_2692-55del	ENSP00000494101.1:n.2692-56_2692-55del
ENST00000646993.1:c.*1091-56_*1091-55del	ENSP00000493720.1:n.*1091-56_*1091-55del
ENST00000647013.1:c.2701-56_2701-55del	ENSP00000496741.1:n.2701-56_2701-55del
ENST00000647015.1:c.2446-56_2446-55del	ENSP00000495389.1:n.2446-56_2446-55del
ENST00000647086.1:c.*2425-56_*2425-55del	ENSP00000493677.1:n.*2425-56_*2425-55del
ENST00000647158.1:c.*836-56_*836-55del	ENSP00000495744.1:n.*836-56_*836-55del
ENST00000302539.8:c.2698-56_2698-55del	ENSP00000303960.4:n.2698-56_2698-55del
ENST00000389817.7:c.2695-56_2695-55del	ENSP00000374467.3:n.2695-56_2695-55del
ENST00000526921.5:n.379-56_379-55del
ENST00000527905.5:c.2665-56_2665-55del	ENSP00000431653.1:n.2665-56_2665-55del
ENST00000529967.5:n.364-56_364-55del
NM_000352.4:c.2695-56_2695-55del	NP_000343.2:n.2695-56_2695-55del
NM_001287174.1:c.2698-56_2698-55del	NP_001274103.1:n.2698-56_2698-55del
XM_011520331.1:c.2695-56_2695-55del	XP_011518633.1:n.2695-56_2695-55del
XM_011520332.1:c.2698-56_2698-55del	XP_011518634.1:n.2698-56_2698-55del
XM_011520333.1:c.1195-56_1195-55del	XP_011518635.1:n.1195-56_1195-55del
XM_011520334.1:c.2698-56_2698-55del	XP_011518636.1:n.2698-56_2698-55del
XR_930890.1:n.2761-56_2761-55del
XR_930891.1:n.2761-56_2761-55del
XR_930892.1:n.2761-56_2761-55del
XR_930893.1:n.2758-56_2758-55del
NM_001351295.1:c.2761-56_2761-55del	NP_001338224.1:n.2761-56_2761-55del
NM_001351296.1:c.2695-56_2695-55del	NP_001338225.1:n.2695-56_2695-55del
NM_001351297.1:c.2692-56_2692-55del	NP_001338226.1:n.2692-56_2692-55del
NR_147094.1:n.2764-56_2764-55del
XM_017018197.2:c.2764-56_2764-55del	XP_016873686.1:n.2764-56_2764-55del
XM_017018199.1:c.2761-56_2761-55del	XP_016873688.1:n.2761-56_2761-55del
XM_017018201.2:c.2764-56_2764-55del	XP_016873690.1:n.2764-56_2764-55del
XM_017018202.1:c.1261-56_1261-55del	XP_016873691.1:n.1261-56_1261-55del
XM_017018204.1:c.652-56_652-55del	XP_016873693.1:n.652-56_652-55del
XM_024448668.1:c.1063-56_1063-55del	XP_024304436.1:n.1063-56_1063-55del
XR_001747945.2:n.2836-56_2836-55del
XR_001747946.2:n.2767-56_2767-55del
XR_002957189.1:n.2836-56_2836-55del
NM_000352.6:c.2695-56_2695-55del MANE Select	NP_000343.2:n.2695-56_2695-55del
NM_001287174.2:c.2698-56_2698-55del	NP_001274103.1:n.2698-56_2698-55del
NM_001351295.2:c.2761-56_2761-55del	NP_001338224.1:n.2761-56_2761-55del
NM_001351296.2:c.2695-56_2695-55del	NP_001338225.1:n.2695-56_2695-55del
NM_001351297.2:c.2692-56_2692-55del	NP_001338226.1:n.2692-56_2692-55del
NR_147094.2:n.2764-56_2764-55del
NM_001287174.3:c.2698-56_2698-55del	NP_001274103.1:n.2698-56_2698-55del