Canonical Allele Identifier: CA2612641238

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396477-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396479_17396480del , CM000673.2:g.17396479_17396480del	GRCh38
NC_000011.9:g.17418026_17418027del , CM000673.1:g.17418026_17418027del	GRCh37
NC_000011.8:g.17374602_17374603del	NCBI36
NG_008867.1:g.85424_85425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+437_3720+438del
ENST00000528374.2:c.710+437_710+438del
ENST00000529967.6:n.2458+437_2458+438del
ENST00000532220.2:n.2804_2805del
ENST00000642611.2:n.4771_4772del
ENST00000644057.2:n.562+437_562+438del
ENST00000645004.2:n.1618+437_1618+438del
ENST00000682051.1:n.4281+437_4281+438del
ENST00000682110.1:n.4334+437_4334+438del
ENST00000682140.1:c.3986-549_3986-548del	ENSP00000507829.1:n.3986-549_3986-548del
ENST00000682185.1:n.5424+437_5424+438del
ENST00000682204.1:c.*2257+437_*2257+438del	ENSP00000507094.1:n.*2257+437_*2257+438del
ENST00000682215.1:n.4701+437_4701+438del
ENST00000682288.1:c.*2550+437_*2550+438del	ENSP00000507506.1:n.*2550+437_*2550+438del
ENST00000682442.1:n.4554+437_4554+438del
ENST00000682528.1:n.4411+437_4411+438del
ENST00000682673.1:n.4278+437_4278+438del
ENST00000682805.1:n.4739+399_4739+400del
ENST00000682965.1:c.*541+437_*541+438del	ENSP00000508229.1:n.*541+437_*541+438del
ENST00000683093.1:n.4870_4871del
ENST00000683136.1:c.4002+437_4002+438del	ENSP00000507768.1:n.4002+437_4002+438del
ENST00000683153.1:n.4376+437_4376+438del
ENST00000683365.1:n.4436+437_4436+438del
ENST00000683377.1:n.4334+437_4334+438del
ENST00000683456.1:c.*1256+437_*1256+438del	ENSP00000508318.1:n.*1256+437_*1256+438del
ENST00000683522.1:n.4334+437_4334+438del
ENST00000683562.1:c.*2288+437_*2288+438del	ENSP00000508265.1:n.*2288+437_*2288+438del
ENST00000683693.1:n.5218_5219del
ENST00000683725.1:c.4119+437_4119+438del	ENSP00000507496.1:n.4119+437_4119+438del
ENST00000684010.1:n.4329+437_4329+438del
ENST00000684157.1:n.4771_4772del
ENST00000684253.1:n.4237+437_4237+438del
ENST00000684288.1:c.*2291+437_*2291+438del	ENSP00000507143.1:n.*2291+437_*2291+438del
ENST00000684313.1:n.3766+437_3766+438del
ENST00000684332.1:n.4407+437_4407+438del
ENST00000684371.1:n.4440+437_4440+438del
ENST00000684404.1:n.4814_4815del
ENST00000684442.1:n.4558+437_4558+438del
ENST00000684555.1:c.*2331+437_*2331+438del	ENSP00000507705.1:n.*2331+437_*2331+438del
ENST00000684571.1:c.3960+437_3960+438del	ENSP00000506935.1:n.3960+437_3960+438del
ENST00000684593.1:c.*3824+437_*3824+438del	ENSP00000507005.1:n.*3824+437_*3824+438del
ENST00000684711.1:c.*2515+437_*2515+438del	ENSP00000506841.1:n.*2515+437_*2515+438del
ENST00000302539.9:c.4122+437_4122+438del	ENSP00000303960.4:n.4122+437_4122+438del
ENST00000389817.8:c.4119+437_4119+438del MANE Select	ENSP00000374467.4:n.4119+437_4119+438del
ENST00000642271.1:c.4116+437_4116+438del	ENSP00000493749.1:n.4116+437_4116+438del
ENST00000642579.1:c.2173+437_2173+438del
ENST00000642611.1:n.4656_4657del
ENST00000642902.1:c.3901+437_3901+438del
ENST00000643260.1:c.4119+437_4119+438del	ENSP00000494450.1:n.4119+437_4119+438del
ENST00000643562.1:c.*2241+437_*2241+438del	ENSP00000496124.1:n.*2241+437_*2241+438del
ENST00000643925.1:c.2759+437_2759+438del
ENST00000644057.1:n.196+437_196+438del
ENST00000644484.1:c.*2957_*2958del	ENSP00000493558.1:n.*2957_*2958del
ENST00000644675.1:c.*2291+437_*2291+438del	ENSP00000494567.1:n.*2291+437_*2291+438del
ENST00000644757.1:c.*2987_*2988del	ENSP00000495085.1:n.*2987_*2988del
ENST00000644772.1:c.4185+437_4185+438del	ENSP00000494321.1:n.4185+437_4185+438del
ENST00000645004.1:n.1812+399_1812+400del
ENST00000645076.1:c.3318+437_3318+438del
ENST00000645417.1:c.1307+437_1307+438del
ENST00000645744.1:c.*3336_*3337del	ENSP00000494564.1:n.*3336_*3337del
ENST00000645760.1:c.4540+437_4540+438del
ENST00000645884.1:c.*1402+437_*1402+438del	ENSP00000495516.1:n.*1402+437_*1402+438del
ENST00000646003.1:c.*2221+437_*2221+438del	ENSP00000495259.1:n.*2221+437_*2221+438del
ENST00000646207.1:c.*2956+437_*2956+438del	ENSP00000495025.1:n.*2956+437_*2956+438del
ENST00000646276.1:c.*2975_*2976del	ENSP00000496070.1:n.*2975_*2976del
ENST00000646592.1:c.3425+437_3425+438del
ENST00000646902.1:c.4086+437_4086+438del	ENSP00000494101.1:n.4086+437_4086+438del
ENST00000646993.1:c.*2661+437_*2661+438del	ENSP00000493720.1:n.*2661+437_*2661+438del
ENST00000647013.1:c.4125+437_4125+438del	ENSP00000496741.1:n.4125+437_4125+438del
ENST00000647015.1:c.3870+437_3870+438del	ENSP00000495389.1:n.3870+437_3870+438del
ENST00000647086.1:c.*3705+437_*3705+438del	ENSP00000493677.1:n.*3705+437_*3705+438del
ENST00000647158.1:c.*2406+437_*2406+438del	ENSP00000495744.1:n.*2406+437_*2406+438del
ENST00000302539.8:c.4122+437_4122+438del	ENSP00000303960.4:n.4122+437_4122+438del
ENST00000389817.7:c.4119+437_4119+438del	ENSP00000374467.3:n.4119+437_4119+438del
ENST00000528374.1:c.601+437_601+438del
ENST00000532220.1:n.593+437_593+438del
NM_000352.4:c.4119+437_4119+438del	NP_000343.2:n.4119+437_4119+438del
NM_001287174.1:c.4122+437_4122+438del	NP_001274103.1:n.4122+437_4122+438del
XM_011520331.1:c.4119+437_4119+438del	XP_011518633.1:n.4119+437_4119+438del
XM_011520332.1:c.4122+437_4122+438del	XP_011518634.1:n.4122+437_4122+438del
XM_011520333.1:c.2619+437_2619+438del	XP_011518635.1:n.2619+437_2619+438del
XR_930890.1:n.4185+437_4185+438del
NM_001351295.1:c.4185+437_4185+438del	NP_001338224.1:n.4185+437_4185+438del
NM_001351296.1:c.4119+437_4119+438del	NP_001338225.1:n.4119+437_4119+438del
NM_001351297.1:c.4116+437_4116+438del	NP_001338226.1:n.4116+437_4116+438del
NR_147094.1:n.4414+437_4414+438del
XM_017018197.2:c.4188+437_4188+438del	XP_016873686.1:n.4188+437_4188+438del
XM_017018199.1:c.4185+437_4185+438del	XP_016873688.1:n.4185+437_4185+438del
XM_017018201.2:c.4188+437_4188+438del	XP_016873690.1:n.4188+437_4188+438del
XM_017018202.1:c.2685+437_2685+438del	XP_016873691.1:n.2685+437_2685+438del
XM_017018204.1:c.2076+437_2076+438del	XP_016873693.1:n.2076+437_2076+438del
XM_024448668.1:c.2487+437_2487+438del	XP_024304436.1:n.2487+437_2487+438del
XR_001747945.2:n.4260+437_4260+438del
XR_001747946.2:n.4191+437_4191+438del
XR_002957189.1:n.5293_5294del
NM_000352.6:c.4119+437_4119+438del MANE Select	NP_000343.2:n.4119+437_4119+438del
NM_001287174.2:c.4122+437_4122+438del	NP_001274103.1:n.4122+437_4122+438del
NM_001351295.2:c.4185+437_4185+438del	NP_001338224.1:n.4185+437_4185+438del
NM_001351296.2:c.4119+437_4119+438del	NP_001338225.1:n.4119+437_4119+438del
NM_001351297.2:c.4116+437_4116+438del	NP_001338226.1:n.4116+437_4116+438del
NR_147094.2:n.4414+437_4414+438del
NM_001287174.3:c.4122+437_4122+438del	NP_001274103.1:n.4122+437_4122+438del