Canonical Allele Identifier: CA2612641096

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396450-GACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396451_17396453del , CM000673.2:g.17396451_17396453del	GRCh38
NC_000011.9:g.17417998_17418000del , CM000673.1:g.17417998_17418000del	GRCh37
NC_000011.8:g.17374574_17374576del	NCBI36
NG_008867.1:g.85450_85452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+463_3720+465del
ENST00000528374.2:c.710+463_710+465del
ENST00000529967.6:n.2458+463_2458+465del
ENST00000532220.2:n.2830_2832del
ENST00000642611.2:n.4797_4799del
ENST00000644057.2:n.562+463_562+465del
ENST00000645004.2:n.1618+463_1618+465del
ENST00000682051.1:n.4281+463_4281+465del
ENST00000682110.1:n.4334+463_4334+465del
ENST00000682140.1:c.3986-523_3986-521del	ENSP00000507829.1:n.3986-523_3986-521del
ENST00000682185.1:n.5424+463_5424+465del
ENST00000682204.1:c.*2257+463_*2257+465del	ENSP00000507094.1:n.*2257+463_*2257+465del
ENST00000682215.1:n.4701+463_4701+465del
ENST00000682288.1:c.*2550+463_*2550+465del	ENSP00000507506.1:n.*2550+463_*2550+465del
ENST00000682442.1:n.4554+463_4554+465del
ENST00000682528.1:n.4411+463_4411+465del
ENST00000682673.1:n.4278+463_4278+465del
ENST00000682805.1:n.4739+425_4739+427del
ENST00000682965.1:c.*541+463_*541+465del	ENSP00000508229.1:n.*541+463_*541+465del
ENST00000683093.1:n.4896_4898del
ENST00000683136.1:c.4002+463_4002+465del	ENSP00000507768.1:n.4002+463_4002+465del
ENST00000683153.1:n.4376+463_4376+465del
ENST00000683365.1:n.4436+463_4436+465del
ENST00000683377.1:n.4334+463_4334+465del
ENST00000683456.1:c.*1256+463_*1256+465del	ENSP00000508318.1:n.*1256+463_*1256+465del
ENST00000683522.1:n.4334+463_4334+465del
ENST00000683562.1:c.*2288+463_*2288+465del	ENSP00000508265.1:n.*2288+463_*2288+465del
ENST00000683693.1:n.5244_5246del
ENST00000683725.1:c.4119+463_4119+465del	ENSP00000507496.1:n.4119+463_4119+465del
ENST00000684010.1:n.4329+463_4329+465del
ENST00000684157.1:n.4797_4799del
ENST00000684253.1:n.4237+463_4237+465del
ENST00000684288.1:c.*2291+463_*2291+465del	ENSP00000507143.1:n.*2291+463_*2291+465del
ENST00000684313.1:n.3766+463_3766+465del
ENST00000684332.1:n.4407+463_4407+465del
ENST00000684371.1:n.4440+463_4440+465del
ENST00000684404.1:n.4840_4842del
ENST00000684442.1:n.4558+463_4558+465del
ENST00000684555.1:c.*2331+463_*2331+465del	ENSP00000507705.1:n.*2331+463_*2331+465del
ENST00000684571.1:c.3960+463_3960+465del	ENSP00000506935.1:n.3960+463_3960+465del
ENST00000684593.1:c.*3824+463_*3824+465del	ENSP00000507005.1:n.*3824+463_*3824+465del
ENST00000684711.1:c.*2515+463_*2515+465del	ENSP00000506841.1:n.*2515+463_*2515+465del
ENST00000302539.9:c.4122+463_4122+465del	ENSP00000303960.4:n.4122+463_4122+465del
ENST00000389817.8:c.4119+463_4119+465del MANE Select	ENSP00000374467.4:n.4119+463_4119+465del
ENST00000642271.1:c.4116+463_4116+465del	ENSP00000493749.1:n.4116+463_4116+465del
ENST00000642579.1:c.2173+463_2173+465del
ENST00000642611.1:n.4682_4684del
ENST00000642902.1:c.3901+463_3901+465del
ENST00000643260.1:c.4119+463_4119+465del	ENSP00000494450.1:n.4119+463_4119+465del
ENST00000643562.1:c.*2241+463_*2241+465del	ENSP00000496124.1:n.*2241+463_*2241+465del
ENST00000643925.1:c.2759+463_2759+465del
ENST00000644057.1:n.196+463_196+465del
ENST00000644484.1:c.*2983_*2985del	ENSP00000493558.1:n.*2983_*2985del
ENST00000644675.1:c.*2291+463_*2291+465del	ENSP00000494567.1:n.*2291+463_*2291+465del
ENST00000644757.1:c.*3013_*3015del	ENSP00000495085.1:n.*3013_*3015del
ENST00000644772.1:c.4185+463_4185+465del	ENSP00000494321.1:n.4185+463_4185+465del
ENST00000645004.1:n.1812+425_1812+427del
ENST00000645076.1:c.3318+463_3318+465del
ENST00000645417.1:c.1307+463_1307+465del
ENST00000645744.1:c.*3362_*3364del	ENSP00000494564.1:n.*3362_*3364del
ENST00000645760.1:c.4540+463_4540+465del
ENST00000645884.1:c.*1402+463_*1402+465del	ENSP00000495516.1:n.*1402+463_*1402+465del
ENST00000646003.1:c.*2221+463_*2221+465del	ENSP00000495259.1:n.*2221+463_*2221+465del
ENST00000646207.1:c.*2956+463_*2956+465del	ENSP00000495025.1:n.*2956+463_*2956+465del
ENST00000646276.1:c.*3001_*3003del	ENSP00000496070.1:n.*3001_*3003del
ENST00000646592.1:c.3425+463_3425+465del
ENST00000646902.1:c.4086+463_4086+465del	ENSP00000494101.1:n.4086+463_4086+465del
ENST00000646993.1:c.*2661+463_*2661+465del	ENSP00000493720.1:n.*2661+463_*2661+465del
ENST00000647013.1:c.4125+463_4125+465del	ENSP00000496741.1:n.4125+463_4125+465del
ENST00000647015.1:c.3870+463_3870+465del	ENSP00000495389.1:n.3870+463_3870+465del
ENST00000647086.1:c.*3705+463_*3705+465del	ENSP00000493677.1:n.*3705+463_*3705+465del
ENST00000647158.1:c.*2406+463_*2406+465del	ENSP00000495744.1:n.*2406+463_*2406+465del
ENST00000302539.8:c.4122+463_4122+465del	ENSP00000303960.4:n.4122+463_4122+465del
ENST00000389817.7:c.4119+463_4119+465del	ENSP00000374467.3:n.4119+463_4119+465del
ENST00000528374.1:c.601+463_601+465del
ENST00000532220.1:n.593+463_593+465del
NM_000352.4:c.4119+463_4119+465del	NP_000343.2:n.4119+463_4119+465del
NM_001287174.1:c.4122+463_4122+465del	NP_001274103.1:n.4122+463_4122+465del
XM_011520331.1:c.4119+463_4119+465del	XP_011518633.1:n.4119+463_4119+465del
XM_011520332.1:c.4122+463_4122+465del	XP_011518634.1:n.4122+463_4122+465del
XM_011520333.1:c.2619+463_2619+465del	XP_011518635.1:n.2619+463_2619+465del
XR_930890.1:n.4185+463_4185+465del
NM_001351295.1:c.4185+463_4185+465del	NP_001338224.1:n.4185+463_4185+465del
NM_001351296.1:c.4119+463_4119+465del	NP_001338225.1:n.4119+463_4119+465del
NM_001351297.1:c.4116+463_4116+465del	NP_001338226.1:n.4116+463_4116+465del
NR_147094.1:n.4414+463_4414+465del
XM_017018197.2:c.4188+463_4188+465del	XP_016873686.1:n.4188+463_4188+465del
XM_017018199.1:c.4185+463_4185+465del	XP_016873688.1:n.4185+463_4185+465del
XM_017018201.2:c.4188+463_4188+465del	XP_016873690.1:n.4188+463_4188+465del
XM_017018202.1:c.2685+463_2685+465del	XP_016873691.1:n.2685+463_2685+465del
XM_017018204.1:c.2076+463_2076+465del	XP_016873693.1:n.2076+463_2076+465del
XM_024448668.1:c.2487+463_2487+465del	XP_024304436.1:n.2487+463_2487+465del
XR_001747945.2:n.4260+463_4260+465del
XR_001747946.2:n.4191+463_4191+465del
XR_002957189.1:n.5319_5321del
NM_000352.6:c.4119+463_4119+465del MANE Select	NP_000343.2:n.4119+463_4119+465del
NM_001287174.2:c.4122+463_4122+465del	NP_001274103.1:n.4122+463_4122+465del
NM_001351295.2:c.4185+463_4185+465del	NP_001338224.1:n.4185+463_4185+465del
NM_001351296.2:c.4119+463_4119+465del	NP_001338225.1:n.4119+463_4119+465del
NM_001351297.2:c.4116+463_4116+465del	NP_001338226.1:n.4116+463_4116+465del
NR_147094.2:n.4414+463_4414+465del
NM_001287174.3:c.4122+463_4122+465del	NP_001274103.1:n.4122+463_4122+465del