Canonical Allele Identifier: CA2612641555

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396557-C-CGCTGTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396558_17396565dup , CM000673.2:g.17396558_17396565dup	GRCh38
NC_000011.9:g.17418105_17418112dup , CM000673.1:g.17418105_17418112dup	GRCh37
NC_000011.8:g.17374681_17374688dup	NCBI36
NG_008867.1:g.85338_85345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+351_3720+358dup
ENST00000528374.2:c.710+351_710+358dup
ENST00000529967.6:n.2458+351_2458+358dup
ENST00000532220.2:n.2718_2725dup
ENST00000642611.2:n.4685_4692dup
ENST00000644057.2:n.562+351_562+358dup
ENST00000645004.2:n.1618+351_1618+358dup
ENST00000682051.1:n.4281+351_4281+358dup
ENST00000682110.1:n.4334+351_4334+358dup
ENST00000682140.1:c.3985+628_3986-628dup	ENSP00000507829.1:n.3985+628_3986-628dup
ENST00000682185.1:n.5424+351_5424+358dup
ENST00000682204.1:c.*2257+351_*2257+358dup	ENSP00000507094.1:n.*2257+351_*2257+358dup
ENST00000682215.1:n.4701+351_4701+358dup
ENST00000682288.1:c.*2550+351_*2550+358dup	ENSP00000507506.1:n.*2550+351_*2550+358dup
ENST00000682442.1:n.4554+351_4554+358dup
ENST00000682528.1:n.4411+351_4411+358dup
ENST00000682673.1:n.4278+351_4278+358dup
ENST00000682805.1:n.4739+313_4739+320dup
ENST00000682965.1:c.*541+351_*541+358dup	ENSP00000508229.1:n.*541+351_*541+358dup
ENST00000683093.1:n.4784_4791dup
ENST00000683136.1:c.4002+351_4002+358dup	ENSP00000507768.1:n.4002+351_4002+358dup
ENST00000683153.1:n.4376+351_4376+358dup
ENST00000683365.1:n.4436+351_4436+358dup
ENST00000683377.1:n.4334+351_4334+358dup
ENST00000683456.1:c.*1256+351_*1256+358dup	ENSP00000508318.1:n.*1256+351_*1256+358dup
ENST00000683522.1:n.4334+351_4334+358dup
ENST00000683562.1:c.*2288+351_*2288+358dup	ENSP00000508265.1:n.*2288+351_*2288+358dup
ENST00000683693.1:n.5132_5139dup
ENST00000683725.1:c.4119+351_4119+358dup	ENSP00000507496.1:n.4119+351_4119+358dup
ENST00000684010.1:n.4329+351_4329+358dup
ENST00000684157.1:n.4685_4692dup
ENST00000684253.1:n.4237+351_4237+358dup
ENST00000684288.1:c.*2291+351_*2291+358dup	ENSP00000507143.1:n.*2291+351_*2291+358dup
ENST00000684313.1:n.3766+351_3766+358dup
ENST00000684332.1:n.4407+351_4407+358dup
ENST00000684371.1:n.4440+351_4440+358dup
ENST00000684404.1:n.4728_4735dup
ENST00000684442.1:n.4558+351_4558+358dup
ENST00000684555.1:c.*2331+351_*2331+358dup	ENSP00000507705.1:n.*2331+351_*2331+358dup
ENST00000684571.1:c.3960+351_3960+358dup	ENSP00000506935.1:n.3960+351_3960+358dup
ENST00000684593.1:c.*3824+351_*3824+358dup	ENSP00000507005.1:n.*3824+351_*3824+358dup
ENST00000684711.1:c.*2515+351_*2515+358dup	ENSP00000506841.1:n.*2515+351_*2515+358dup
ENST00000302539.9:c.4122+351_4122+358dup	ENSP00000303960.4:n.4122+351_4122+358dup
ENST00000389817.8:c.4119+351_4119+358dup MANE Select	ENSP00000374467.4:n.4119+351_4119+358dup
ENST00000642271.1:c.4116+351_4116+358dup	ENSP00000493749.1:n.4116+351_4116+358dup
ENST00000642579.1:c.2173+351_2173+358dup
ENST00000642611.1:n.4570_4577dup
ENST00000642902.1:c.3901+351_3901+358dup
ENST00000643260.1:c.4119+351_4119+358dup	ENSP00000494450.1:n.4119+351_4119+358dup
ENST00000643562.1:c.*2241+351_*2241+358dup	ENSP00000496124.1:n.*2241+351_*2241+358dup
ENST00000643925.1:c.2759+351_2759+358dup
ENST00000644057.1:n.196+351_196+358dup
ENST00000644484.1:c.*2871_*2878dup	ENSP00000493558.1:n.*2871_*2878dup
ENST00000644675.1:c.*2291+351_*2291+358dup	ENSP00000494567.1:n.*2291+351_*2291+358dup
ENST00000644757.1:c.*2901_*2908dup	ENSP00000495085.1:n.*2901_*2908dup
ENST00000644772.1:c.4185+351_4185+358dup	ENSP00000494321.1:n.4185+351_4185+358dup
ENST00000645004.1:n.1812+313_1812+320dup
ENST00000645076.1:c.3318+351_3318+358dup
ENST00000645417.1:c.1307+351_1307+358dup
ENST00000645744.1:c.*3250_*3257dup	ENSP00000494564.1:n.*3250_*3257dup
ENST00000645760.1:c.4540+351_4540+358dup
ENST00000645884.1:c.*1402+351_*1402+358dup	ENSP00000495516.1:n.*1402+351_*1402+358dup
ENST00000646003.1:c.*2221+351_*2221+358dup	ENSP00000495259.1:n.*2221+351_*2221+358dup
ENST00000646207.1:c.*2956+351_*2956+358dup	ENSP00000495025.1:n.*2956+351_*2956+358dup
ENST00000646276.1:c.*2889_*2896dup	ENSP00000496070.1:n.*2889_*2896dup
ENST00000646592.1:c.3425+351_3425+358dup
ENST00000646902.1:c.4086+351_4086+358dup	ENSP00000494101.1:n.4086+351_4086+358dup
ENST00000646993.1:c.*2661+351_*2661+358dup	ENSP00000493720.1:n.*2661+351_*2661+358dup
ENST00000647013.1:c.4125+351_4125+358dup	ENSP00000496741.1:n.4125+351_4125+358dup
ENST00000647015.1:c.3870+351_3870+358dup	ENSP00000495389.1:n.3870+351_3870+358dup
ENST00000647086.1:c.*3705+351_*3705+358dup	ENSP00000493677.1:n.*3705+351_*3705+358dup
ENST00000647158.1:c.*2406+351_*2406+358dup	ENSP00000495744.1:n.*2406+351_*2406+358dup
ENST00000302539.8:c.4122+351_4122+358dup	ENSP00000303960.4:n.4122+351_4122+358dup
ENST00000389817.7:c.4119+351_4119+358dup	ENSP00000374467.3:n.4119+351_4119+358dup
ENST00000528374.1:c.601+351_601+358dup
ENST00000532220.1:n.593+351_593+358dup
NM_000352.4:c.4119+351_4119+358dup	NP_000343.2:n.4119+351_4119+358dup
NM_001287174.1:c.4122+351_4122+358dup	NP_001274103.1:n.4122+351_4122+358dup
XM_011520331.1:c.4119+351_4119+358dup	XP_011518633.1:n.4119+351_4119+358dup
XM_011520332.1:c.4122+351_4122+358dup	XP_011518634.1:n.4122+351_4122+358dup
XM_011520333.1:c.2619+351_2619+358dup	XP_011518635.1:n.2619+351_2619+358dup
XR_930890.1:n.4185+351_4185+358dup
NM_001351295.1:c.4185+351_4185+358dup	NP_001338224.1:n.4185+351_4185+358dup
NM_001351296.1:c.4119+351_4119+358dup	NP_001338225.1:n.4119+351_4119+358dup
NM_001351297.1:c.4116+351_4116+358dup	NP_001338226.1:n.4116+351_4116+358dup
NR_147094.1:n.4414+351_4414+358dup
XM_017018197.2:c.4188+351_4188+358dup	XP_016873686.1:n.4188+351_4188+358dup
XM_017018199.1:c.4185+351_4185+358dup	XP_016873688.1:n.4185+351_4185+358dup
XM_017018201.2:c.4188+351_4188+358dup	XP_016873690.1:n.4188+351_4188+358dup
XM_017018202.1:c.2685+351_2685+358dup	XP_016873691.1:n.2685+351_2685+358dup
XM_017018204.1:c.2076+351_2076+358dup	XP_016873693.1:n.2076+351_2076+358dup
XM_024448668.1:c.2487+351_2487+358dup	XP_024304436.1:n.2487+351_2487+358dup
XR_001747945.2:n.4260+351_4260+358dup
XR_001747946.2:n.4191+351_4191+358dup
XR_002957189.1:n.5207_5214dup
NM_000352.6:c.4119+351_4119+358dup MANE Select	NP_000343.2:n.4119+351_4119+358dup
NM_001287174.2:c.4122+351_4122+358dup	NP_001274103.1:n.4122+351_4122+358dup
NM_001351295.2:c.4185+351_4185+358dup	NP_001338224.1:n.4185+351_4185+358dup
NM_001351296.2:c.4119+351_4119+358dup	NP_001338225.1:n.4119+351_4119+358dup
NM_001351297.2:c.4116+351_4116+358dup	NP_001338226.1:n.4116+351_4116+358dup
NR_147094.2:n.4414+351_4414+358dup
NM_001287174.3:c.4122+351_4122+358dup	NP_001274103.1:n.4122+351_4122+358dup