Canonical Allele Identifier: CA935525481

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953934828
• gnomAD v3: 11-17396497-CGAGAG-C
• gnomAD v4: 11-17396497-CGAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396503_17396507del , CM000673.2:g.17396503_17396507del	GRCh38
NC_000011.9:g.17418050_17418054del , CM000673.1:g.17418050_17418054del	GRCh37
NC_000011.8:g.17374626_17374630del	NCBI36
NG_008867.1:g.85401_85405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+414_3720+418del
ENST00000528374.2:c.710+414_710+418del
ENST00000529967.6:n.2458+414_2458+418del
ENST00000532220.2:n.2781_2785del
ENST00000642611.2:n.4748_4752del
ENST00000644057.2:n.562+414_562+418del
ENST00000645004.2:n.1618+414_1618+418del
ENST00000682051.1:n.4281+414_4281+418del
ENST00000682110.1:n.4334+414_4334+418del
ENST00000682140.1:c.3986-572_3986-568del	ENSP00000507829.1:n.3986-572_3986-568del
ENST00000682185.1:n.5424+414_5424+418del
ENST00000682204.1:c.*2257+414_*2257+418del	ENSP00000507094.1:n.*2257+414_*2257+418del
ENST00000682215.1:n.4701+414_4701+418del
ENST00000682288.1:c.*2550+414_*2550+418del	ENSP00000507506.1:n.*2550+414_*2550+418del
ENST00000682442.1:n.4554+414_4554+418del
ENST00000682528.1:n.4411+414_4411+418del
ENST00000682673.1:n.4278+414_4278+418del
ENST00000682805.1:n.4739+376_4739+380del
ENST00000682965.1:c.*541+414_*541+418del	ENSP00000508229.1:n.*541+414_*541+418del
ENST00000683093.1:n.4847_4851del
ENST00000683136.1:c.4002+414_4002+418del	ENSP00000507768.1:n.4002+414_4002+418del
ENST00000683153.1:n.4376+414_4376+418del
ENST00000683365.1:n.4436+414_4436+418del
ENST00000683377.1:n.4334+414_4334+418del
ENST00000683456.1:c.*1256+414_*1256+418del	ENSP00000508318.1:n.*1256+414_*1256+418del
ENST00000683522.1:n.4334+414_4334+418del
ENST00000683562.1:c.*2288+414_*2288+418del	ENSP00000508265.1:n.*2288+414_*2288+418del
ENST00000683693.1:n.5195_5199del
ENST00000683725.1:c.4119+414_4119+418del	ENSP00000507496.1:n.4119+414_4119+418del
ENST00000684010.1:n.4329+414_4329+418del
ENST00000684157.1:n.4748_4752del
ENST00000684253.1:n.4237+414_4237+418del
ENST00000684288.1:c.*2291+414_*2291+418del	ENSP00000507143.1:n.*2291+414_*2291+418del
ENST00000684313.1:n.3766+414_3766+418del
ENST00000684332.1:n.4407+414_4407+418del
ENST00000684371.1:n.4440+414_4440+418del
ENST00000684404.1:n.4791_4795del
ENST00000684442.1:n.4558+414_4558+418del
ENST00000684555.1:c.*2331+414_*2331+418del	ENSP00000507705.1:n.*2331+414_*2331+418del
ENST00000684571.1:c.3960+414_3960+418del	ENSP00000506935.1:n.3960+414_3960+418del
ENST00000684593.1:c.*3824+414_*3824+418del	ENSP00000507005.1:n.*3824+414_*3824+418del
ENST00000684711.1:c.*2515+414_*2515+418del	ENSP00000506841.1:n.*2515+414_*2515+418del
ENST00000302539.9:c.4122+414_4122+418del	ENSP00000303960.4:n.4122+414_4122+418del
ENST00000389817.8:c.4119+414_4119+418del MANE Select	ENSP00000374467.4:n.4119+414_4119+418del
ENST00000642271.1:c.4116+414_4116+418del	ENSP00000493749.1:n.4116+414_4116+418del
ENST00000642579.1:c.2173+414_2173+418del
ENST00000642611.1:n.4633_4637del
ENST00000642902.1:c.3901+414_3901+418del
ENST00000643260.1:c.4119+414_4119+418del	ENSP00000494450.1:n.4119+414_4119+418del
ENST00000643562.1:c.*2241+414_*2241+418del	ENSP00000496124.1:n.*2241+414_*2241+418del
ENST00000643925.1:c.2759+414_2759+418del
ENST00000644057.1:n.196+414_196+418del
ENST00000644484.1:c.*2934_*2938del	ENSP00000493558.1:n.*2934_*2938del
ENST00000644675.1:c.*2291+414_*2291+418del	ENSP00000494567.1:n.*2291+414_*2291+418del
ENST00000644757.1:c.*2964_*2968del	ENSP00000495085.1:n.*2964_*2968del
ENST00000644772.1:c.4185+414_4185+418del	ENSP00000494321.1:n.4185+414_4185+418del
ENST00000645004.1:n.1812+376_1812+380del
ENST00000645076.1:c.3318+414_3318+418del
ENST00000645417.1:c.1307+414_1307+418del
ENST00000645744.1:c.*3313_*3317del	ENSP00000494564.1:n.*3313_*3317del
ENST00000645760.1:c.4540+414_4540+418del
ENST00000645884.1:c.*1402+414_*1402+418del	ENSP00000495516.1:n.*1402+414_*1402+418del
ENST00000646003.1:c.*2221+414_*2221+418del	ENSP00000495259.1:n.*2221+414_*2221+418del
ENST00000646207.1:c.*2956+414_*2956+418del	ENSP00000495025.1:n.*2956+414_*2956+418del
ENST00000646276.1:c.*2952_*2956del	ENSP00000496070.1:n.*2952_*2956del
ENST00000646592.1:c.3425+414_3425+418del
ENST00000646902.1:c.4086+414_4086+418del	ENSP00000494101.1:n.4086+414_4086+418del
ENST00000646993.1:c.*2661+414_*2661+418del	ENSP00000493720.1:n.*2661+414_*2661+418del
ENST00000647013.1:c.4125+414_4125+418del	ENSP00000496741.1:n.4125+414_4125+418del
ENST00000647015.1:c.3870+414_3870+418del	ENSP00000495389.1:n.3870+414_3870+418del
ENST00000647086.1:c.*3705+414_*3705+418del	ENSP00000493677.1:n.*3705+414_*3705+418del
ENST00000647158.1:c.*2406+414_*2406+418del	ENSP00000495744.1:n.*2406+414_*2406+418del
ENST00000302539.8:c.4122+414_4122+418del	ENSP00000303960.4:n.4122+414_4122+418del
ENST00000389817.7:c.4119+414_4119+418del	ENSP00000374467.3:n.4119+414_4119+418del
ENST00000528374.1:c.601+414_601+418del
ENST00000532220.1:n.593+414_593+418del
NM_000352.4:c.4119+414_4119+418del	NP_000343.2:n.4119+414_4119+418del
NM_001287174.1:c.4122+414_4122+418del	NP_001274103.1:n.4122+414_4122+418del
XM_011520331.1:c.4119+414_4119+418del	XP_011518633.1:n.4119+414_4119+418del
XM_011520332.1:c.4122+414_4122+418del	XP_011518634.1:n.4122+414_4122+418del
XM_011520333.1:c.2619+414_2619+418del	XP_011518635.1:n.2619+414_2619+418del
XR_930890.1:n.4185+414_4185+418del
NM_001351295.1:c.4185+414_4185+418del	NP_001338224.1:n.4185+414_4185+418del
NM_001351296.1:c.4119+414_4119+418del	NP_001338225.1:n.4119+414_4119+418del
NM_001351297.1:c.4116+414_4116+418del	NP_001338226.1:n.4116+414_4116+418del
NR_147094.1:n.4414+414_4414+418del
XM_017018197.2:c.4188+414_4188+418del	XP_016873686.1:n.4188+414_4188+418del
XM_017018199.1:c.4185+414_4185+418del	XP_016873688.1:n.4185+414_4185+418del
XM_017018201.2:c.4188+414_4188+418del	XP_016873690.1:n.4188+414_4188+418del
XM_017018202.1:c.2685+414_2685+418del	XP_016873691.1:n.2685+414_2685+418del
XM_017018204.1:c.2076+414_2076+418del	XP_016873693.1:n.2076+414_2076+418del
XM_024448668.1:c.2487+414_2487+418del	XP_024304436.1:n.2487+414_2487+418del
XR_001747945.2:n.4260+414_4260+418del
XR_001747946.2:n.4191+414_4191+418del
XR_002957189.1:n.5270_5274del
NM_000352.6:c.4119+414_4119+418del MANE Select	NP_000343.2:n.4119+414_4119+418del
NM_001287174.2:c.4122+414_4122+418del	NP_001274103.1:n.4122+414_4122+418del
NM_001351295.2:c.4185+414_4185+418del	NP_001338224.1:n.4185+414_4185+418del
NM_001351296.2:c.4119+414_4119+418del	NP_001338225.1:n.4119+414_4119+418del
NM_001351297.2:c.4116+414_4116+418del	NP_001338226.1:n.4116+414_4116+418del
NR_147094.2:n.4414+414_4414+418del
NM_001287174.3:c.4122+414_4122+418del	NP_001274103.1:n.4122+414_4122+418del