Canonical Allele Identifier: CA1139532034

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412725_17412726delinsTT , CM000673.2:g.17412725_17412726delinsTT	GRCh38
NC_000011.9:g.17434272_17434273delinsTT , CM000673.1:g.17434272_17434273delinsTT	GRCh37
NC_000011.8:g.17390848_17390849delinsTT	NCBI36
NG_008867.1:g.69177_69178delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2165_2166delinsAA
ENST00000529967.6:n.755_756delinsAA
ENST00000642611.2:n.2565_2566delinsAA
ENST00000682051.1:n.2512_2513delinsAA
ENST00000682110.1:n.2565_2566delinsAA
ENST00000682140.1:c.2493_2494delinsAA	ENSP00000507829.1:p.Gln832Lys
ENST00000682185.1:n.3801_3802delinsAA
ENST00000682204.1:c.*634_*635delinsAA	ENSP00000507094.1:n.*634_*635delinsAA
ENST00000682215.1:n.2562_2563delinsAA
ENST00000682288.1:c.*927_*928delinsAA	ENSP00000507506.1:n.*927_*928delinsAA
ENST00000682442.1:n.2686_2687delinsAA
ENST00000682528.1:n.2562_2563delinsAA
ENST00000682673.1:n.2509_2510delinsAA
ENST00000682805.1:n.2562_2563delinsAA
ENST00000682965.1:c.2493_2494delinsAA	ENSP00000508229.1:p.Gln832Lys
ENST00000683093.1:n.2664_2665delinsAA
ENST00000683136.1:c.2493_2494delinsAA	ENSP00000507768.1:p.Gln832Lys
ENST00000683153.1:n.2721_2722delinsAA
ENST00000683365.1:n.2667_2668delinsAA
ENST00000683377.1:n.2565_2566delinsAA
ENST00000683456.1:c.2496_2497delinsAA	ENSP00000508318.1:p.Gln833Lys
ENST00000683522.1:n.2565_2566delinsAA
ENST00000683562.1:c.*665_*666delinsAA	ENSP00000508265.1:n.*665_*666delinsAA
ENST00000683693.1:n.2562_2563delinsAA
ENST00000683725.1:c.2496_2497delinsAA	ENSP00000507496.1:p.Gln833Lys
ENST00000684010.1:n.2480_2481delinsAA
ENST00000684157.1:n.2565_2566delinsAA
ENST00000684253.1:n.2468_2469delinsAA
ENST00000684288.1:c.*668_*669delinsAA	ENSP00000507143.1:n.*668_*669delinsAA
ENST00000684313.1:n.1997_1998delinsAA
ENST00000684332.1:n.2638_2639delinsAA
ENST00000684371.1:n.2671_2672delinsAA
ENST00000684404.1:n.2562_2563delinsAA
ENST00000684442.1:n.2565_2566delinsAA
ENST00000684555.1:c.*708_*709delinsAA	ENSP00000507705.1:n.*708_*709delinsAA
ENST00000684571.1:c.2337_2338delinsAA	ENSP00000506935.1:p.Gln780Lys
ENST00000684593.1:c.*2201_*2202delinsAA	ENSP00000507005.1:n.*2201_*2202delinsAA
ENST00000684711.1:c.*892_*893delinsAA	ENSP00000506841.1:n.*892_*893delinsAA
ENST00000302539.9:c.2499_2500delinsAA	ENSP00000303960.4:p.Gln834Lys
ENST00000389817.8:c.2496_2497delinsAA MANE Select	ENSP00000374467.4:p.Gln833Lys
ENST00000642271.1:c.2493_2494delinsAA	ENSP00000493749.1:p.Gln832Lys
ENST00000642579.1:c.580_581delinsAA
ENST00000642611.1:n.2450_2451delinsAA
ENST00000642902.1:c.2331_2332delinsAA
ENST00000643260.1:c.2496_2497delinsAA	ENSP00000494450.1:p.Gln833Lys
ENST00000643562.1:c.*472_*473delinsAA	ENSP00000496124.1:n.*472_*473delinsAA
ENST00000643925.1:c.540_541delinsAA
ENST00000644447.1:c.852_853delinsAA	ENSP00000496282.1:p.Gln285Lys
ENST00000644472.1:c.*857_*858delinsAA	ENSP00000495378.1:n.*857_*858delinsAA
ENST00000644484.1:c.*705_*706delinsAA	ENSP00000493558.1:n.*705_*706delinsAA
ENST00000644542.1:c.*2201_*2202delinsAA	ENSP00000495532.1:n.*2201_*2202delinsAA
ENST00000644675.1:c.*668_*669delinsAA	ENSP00000494567.1:n.*668_*669delinsAA
ENST00000644757.1:c.*801_*802delinsAA	ENSP00000495085.1:n.*801_*802delinsAA
ENST00000644772.1:c.2562_2563delinsAA	ENSP00000494321.1:p.Gln855Lys
ENST00000645076.1:c.1748_1749delinsAA
ENST00000645744.1:c.*860_*861delinsAA	ENSP00000494564.1:n.*860_*861delinsAA
ENST00000645760.1:c.2771_2772delinsAA
ENST00000645884.1:c.2496_2497delinsAA	ENSP00000495516.1:p.Gln833Lys
ENST00000646003.1:c.*552_*553delinsAA	ENSP00000495259.1:n.*552_*553delinsAA
ENST00000646207.1:c.*860_*861delinsAA	ENSP00000495025.1:n.*860_*861delinsAA
ENST00000646276.1:c.*769_*770delinsAA	ENSP00000496070.1:n.*769_*770delinsAA
ENST00000646592.1:c.1722_1723delinsAA
ENST00000646902.1:c.2493_2494delinsAA	ENSP00000494101.1:p.Gln832Lys
ENST00000646993.1:c.*892_*893delinsAA	ENSP00000493720.1:n.*892_*893delinsAA
ENST00000647013.1:c.2502_2503delinsAA	ENSP00000496741.1:n.2502_2503delinsAA
ENST00000647015.1:c.2247_2248delinsAA	ENSP00000495389.1:p.Gln750Lys
ENST00000647086.1:c.*2226_*2227delinsAA	ENSP00000493677.1:n.*2226_*2227delinsAA
ENST00000647158.1:c.*637_*638delinsAA	ENSP00000495744.1:n.*637_*638delinsAA
ENST00000302539.8:c.2499_2500delinsAA	ENSP00000303960.4:p.Gln834Lys
ENST00000389817.7:c.2496_2497delinsAA	ENSP00000374467.3:p.Gln833Lys
ENST00000526921.5:n.180_181delinsAA
ENST00000527905.5:c.2466_2467delinsAA	ENSP00000431653.1:p.Gln823Lys
ENST00000529967.5:n.165_166delinsAA
ENST00000530147.5:n.79_80delinsAA
ENST00000531911.1:n.610_611delinsAA
NM_000352.4:c.2496_2497delinsAA	NP_000343.2:p.Gln833Lys
NM_001287174.1:c.2499_2500delinsAA	NP_001274103.1:p.Gln834Lys
XM_011520331.1:c.2496_2497delinsAA	XP_011518633.1:p.Gln833Lys
XM_011520332.1:c.2499_2500delinsAA	XP_011518634.1:p.Gln834Lys
XM_011520333.1:c.996_997delinsAA	XP_011518635.1:p.Gln333Lys
XM_011520334.1:c.2499_2500delinsAA	XP_011518636.1:p.Gln834Lys
XR_930890.1:n.2562_2563delinsAA
XR_930891.1:n.2562_2563delinsAA
XR_930892.1:n.2562_2563delinsAA
XR_930893.1:n.2559_2560delinsAA
NM_001351295.1:c.2562_2563delinsAA	NP_001338224.1:p.Gln855Lys
NM_001351296.1:c.2496_2497delinsAA	NP_001338225.1:p.Gln833Lys
NM_001351297.1:c.2493_2494delinsAA	NP_001338226.1:p.Gln832Lys
NR_147094.1:n.2565_2566delinsAA
XM_017018197.2:c.2565_2566delinsAA	XP_016873686.1:p.Gln856Lys
XM_017018199.1:c.2562_2563delinsAA	XP_016873688.1:p.Gln855Lys
XM_017018201.2:c.2565_2566delinsAA	XP_016873690.1:p.Gln856Lys
XM_017018202.1:c.1062_1063delinsAA	XP_016873691.1:p.Gln355Lys
XM_017018204.1:c.453_454delinsAA	XP_016873693.1:p.Gln152Lys
XM_024448668.1:c.864_865delinsAA	XP_024304436.1:p.Gln289Lys
XR_001747945.2:n.2637_2638delinsAA
XR_001747946.2:n.2568_2569delinsAA
XR_002957189.1:n.2637_2638delinsAA
NM_000352.6:c.2496_2497delinsAA MANE Select	NP_000343.2:p.Gln833Lys
NM_001287174.2:c.2499_2500delinsAA	NP_001274103.1:p.Gln834Lys
NM_001351295.2:c.2562_2563delinsAA	NP_001338224.1:p.Gln855Lys
NM_001351296.2:c.2496_2497delinsAA	NP_001338225.1:p.Gln833Lys
NM_001351297.2:c.2493_2494delinsAA	NP_001338226.1:p.Gln832Lys
NR_147094.2:n.2565_2566delinsAA
NM_001287174.3:c.2499_2500delinsAA	NP_001274103.1:p.Gln834Lys