Canonical Allele Identifier: CA2612641608

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396573-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396573_17396574insC , CM000673.2:g.17396573_17396574insC	GRCh38
NC_000011.9:g.17418120_17418121insC , CM000673.1:g.17418120_17418121insC	GRCh37
NC_000011.8:g.17374696_17374697insC	NCBI36
NG_008867.1:g.85329_85330insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+342_3720+343insG
ENST00000528374.2:c.710+342_710+343insG
ENST00000529967.6:n.2458+342_2458+343insG
ENST00000532220.2:n.2709_2710insG
ENST00000642611.2:n.4676_4677insG
ENST00000644057.2:n.562+342_562+343insG
ENST00000645004.2:n.1618+342_1618+343insG
ENST00000682051.1:n.4281+342_4281+343insG
ENST00000682110.1:n.4334+342_4334+343insG
ENST00000682140.1:c.3985+619_3985+620insG	ENSP00000507829.1:n.3985+619_3985+620insG
ENST00000682185.1:n.5424+342_5424+343insG
ENST00000682204.1:c.*2257+342_*2257+343insG	ENSP00000507094.1:n.*2257+342_*2257+343insG
ENST00000682215.1:n.4701+342_4701+343insG
ENST00000682288.1:c.*2550+342_*2550+343insG	ENSP00000507506.1:n.*2550+342_*2550+343insG
ENST00000682442.1:n.4554+342_4554+343insG
ENST00000682528.1:n.4411+342_4411+343insG
ENST00000682673.1:n.4278+342_4278+343insG
ENST00000682805.1:n.4739+304_4739+305insG
ENST00000682965.1:c.*541+342_*541+343insG	ENSP00000508229.1:n.*541+342_*541+343insG
ENST00000683093.1:n.4775_4776insG
ENST00000683136.1:c.4002+342_4002+343insG	ENSP00000507768.1:n.4002+342_4002+343insG
ENST00000683153.1:n.4376+342_4376+343insG
ENST00000683365.1:n.4436+342_4436+343insG
ENST00000683377.1:n.4334+342_4334+343insG
ENST00000683456.1:c.*1256+342_*1256+343insG	ENSP00000508318.1:n.*1256+342_*1256+343insG
ENST00000683522.1:n.4334+342_4334+343insG
ENST00000683562.1:c.*2288+342_*2288+343insG	ENSP00000508265.1:n.*2288+342_*2288+343insG
ENST00000683693.1:n.5123_5124insG
ENST00000683725.1:c.4119+342_4119+343insG	ENSP00000507496.1:n.4119+342_4119+343insG
ENST00000684010.1:n.4329+342_4329+343insG
ENST00000684157.1:n.4676_4677insG
ENST00000684253.1:n.4237+342_4237+343insG
ENST00000684288.1:c.*2291+342_*2291+343insG	ENSP00000507143.1:n.*2291+342_*2291+343insG
ENST00000684313.1:n.3766+342_3766+343insG
ENST00000684332.1:n.4407+342_4407+343insG
ENST00000684371.1:n.4440+342_4440+343insG
ENST00000684404.1:n.4719_4720insG
ENST00000684442.1:n.4558+342_4558+343insG
ENST00000684555.1:c.*2331+342_*2331+343insG	ENSP00000507705.1:n.*2331+342_*2331+343insG
ENST00000684571.1:c.3960+342_3960+343insG	ENSP00000506935.1:n.3960+342_3960+343insG
ENST00000684593.1:c.*3824+342_*3824+343insG	ENSP00000507005.1:n.*3824+342_*3824+343insG
ENST00000684711.1:c.*2515+342_*2515+343insG	ENSP00000506841.1:n.*2515+342_*2515+343insG
ENST00000302539.9:c.4122+342_4122+343insG	ENSP00000303960.4:n.4122+342_4122+343insG
ENST00000389817.8:c.4119+342_4119+343insG MANE Select	ENSP00000374467.4:n.4119+342_4119+343insG
ENST00000642271.1:c.4116+342_4116+343insG	ENSP00000493749.1:n.4116+342_4116+343insG
ENST00000642579.1:c.2173+342_2173+343insG
ENST00000642611.1:n.4561_4562insG
ENST00000642902.1:c.3901+342_3901+343insG
ENST00000643260.1:c.4119+342_4119+343insG	ENSP00000494450.1:n.4119+342_4119+343insG
ENST00000643562.1:c.*2241+342_*2241+343insG	ENSP00000496124.1:n.*2241+342_*2241+343insG
ENST00000643925.1:c.2759+342_2759+343insG
ENST00000644057.1:n.196+342_196+343insG
ENST00000644484.1:c.*2862_*2863insG	ENSP00000493558.1:n.*2862_*2863insG
ENST00000644675.1:c.*2291+342_*2291+343insG	ENSP00000494567.1:n.*2291+342_*2291+343insG
ENST00000644757.1:c.*2892_*2893insG	ENSP00000495085.1:n.*2892_*2893insG
ENST00000644772.1:c.4185+342_4185+343insG	ENSP00000494321.1:n.4185+342_4185+343insG
ENST00000645004.1:n.1812+304_1812+305insG
ENST00000645076.1:c.3318+342_3318+343insG
ENST00000645417.1:c.1307+342_1307+343insG
ENST00000645744.1:c.*3241_*3242insG	ENSP00000494564.1:n.*3241_*3242insG
ENST00000645760.1:c.4540+342_4540+343insG
ENST00000645884.1:c.*1402+342_*1402+343insG	ENSP00000495516.1:n.*1402+342_*1402+343insG
ENST00000646003.1:c.*2221+342_*2221+343insG	ENSP00000495259.1:n.*2221+342_*2221+343insG
ENST00000646207.1:c.*2956+342_*2956+343insG	ENSP00000495025.1:n.*2956+342_*2956+343insG
ENST00000646276.1:c.*2880_*2881insG	ENSP00000496070.1:n.*2880_*2881insG
ENST00000646592.1:c.3425+342_3425+343insG
ENST00000646902.1:c.4086+342_4086+343insG	ENSP00000494101.1:n.4086+342_4086+343insG
ENST00000646993.1:c.*2661+342_*2661+343insG	ENSP00000493720.1:n.*2661+342_*2661+343insG
ENST00000647013.1:c.4125+342_4125+343insG	ENSP00000496741.1:n.4125+342_4125+343insG
ENST00000647015.1:c.3870+342_3870+343insG	ENSP00000495389.1:n.3870+342_3870+343insG
ENST00000647086.1:c.*3705+342_*3705+343insG	ENSP00000493677.1:n.*3705+342_*3705+343insG
ENST00000647158.1:c.*2406+342_*2406+343insG	ENSP00000495744.1:n.*2406+342_*2406+343insG
ENST00000302539.8:c.4122+342_4122+343insG	ENSP00000303960.4:n.4122+342_4122+343insG
ENST00000389817.7:c.4119+342_4119+343insG	ENSP00000374467.3:n.4119+342_4119+343insG
ENST00000528374.1:c.601+342_601+343insG
ENST00000532220.1:n.593+342_593+343insG
NM_000352.4:c.4119+342_4119+343insG	NP_000343.2:n.4119+342_4119+343insG
NM_001287174.1:c.4122+342_4122+343insG	NP_001274103.1:n.4122+342_4122+343insG
XM_011520331.1:c.4119+342_4119+343insG	XP_011518633.1:n.4119+342_4119+343insG
XM_011520332.1:c.4122+342_4122+343insG	XP_011518634.1:n.4122+342_4122+343insG
XM_011520333.1:c.2619+342_2619+343insG	XP_011518635.1:n.2619+342_2619+343insG
XR_930890.1:n.4185+342_4185+343insG
NM_001351295.1:c.4185+342_4185+343insG	NP_001338224.1:n.4185+342_4185+343insG
NM_001351296.1:c.4119+342_4119+343insG	NP_001338225.1:n.4119+342_4119+343insG
NM_001351297.1:c.4116+342_4116+343insG	NP_001338226.1:n.4116+342_4116+343insG
NR_147094.1:n.4414+342_4414+343insG
XM_017018197.2:c.4188+342_4188+343insG	XP_016873686.1:n.4188+342_4188+343insG
XM_017018199.1:c.4185+342_4185+343insG	XP_016873688.1:n.4185+342_4185+343insG
XM_017018201.2:c.4188+342_4188+343insG	XP_016873690.1:n.4188+342_4188+343insG
XM_017018202.1:c.2685+342_2685+343insG	XP_016873691.1:n.2685+342_2685+343insG
XM_017018204.1:c.2076+342_2076+343insG	XP_016873693.1:n.2076+342_2076+343insG
XM_024448668.1:c.2487+342_2487+343insG	XP_024304436.1:n.2487+342_2487+343insG
XR_001747945.2:n.4260+342_4260+343insG
XR_001747946.2:n.4191+342_4191+343insG
XR_002957189.1:n.5198_5199insG
NM_000352.6:c.4119+342_4119+343insG MANE Select	NP_000343.2:n.4119+342_4119+343insG
NM_001287174.2:c.4122+342_4122+343insG	NP_001274103.1:n.4122+342_4122+343insG
NM_001351295.2:c.4185+342_4185+343insG	NP_001338224.1:n.4185+342_4185+343insG
NM_001351296.2:c.4119+342_4119+343insG	NP_001338225.1:n.4119+342_4119+343insG
NM_001351297.2:c.4116+342_4116+343insG	NP_001338226.1:n.4116+342_4116+343insG
NR_147094.2:n.4414+342_4414+343insG
NM_001287174.3:c.4122+342_4122+343insG	NP_001274103.1:n.4122+342_4122+343insG