Canonical Allele Identifier: CA674180653

Gene: ABCC8

Linked Data

• dbSNP Id: rs1460089755
• gnomAD v4: 11-17402622-CCT-C
• MyVariant Identifiers: chr11:g.17424170_17424171del (hg19) ; chr11:g.17402623_17402624del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17402623_17402624del , CM000673.2:g.17402623_17402624del	GRCh38
NC_000011.9:g.17424170_17424171del , CM000673.1:g.17424170_17424171del	GRCh37
NC_000011.8:g.17380746_17380747del	NCBI36
NG_008867.1:g.79279_79280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3219+37_3219+38del
ENST00000528374.2:c.229+37_229+38del
ENST00000529967.6:n.1989+37_1989+38del
ENST00000532220.2:n.1382+37_1382+38del
ENST00000642611.2:n.3719+37_3719+38del
ENST00000644057.2:n.93+37_93+38del
ENST00000645004.2:n.1149+37_1149+38del
ENST00000682051.1:n.3666+37_3666+38del
ENST00000682110.1:n.3719+37_3719+38del
ENST00000682140.1:c.3647+37_3647+38del	ENSP00000507829.1:n.3647+37_3647+38del
ENST00000682185.1:n.4955+37_4955+38del
ENST00000682204.1:c.*1788+37_*1788+38del	ENSP00000507094.1:n.*1788+37_*1788+38del
ENST00000682215.1:n.3716+37_3716+38del
ENST00000682288.1:c.*2081+37_*2081+38del	ENSP00000507506.1:n.*2081+37_*2081+38del
ENST00000682442.1:n.3939+37_3939+38del
ENST00000682528.1:n.3796+37_3796+38del
ENST00000682673.1:n.3663+37_3663+38del
ENST00000682805.1:n.3716+37_3716+38del
ENST00000682965.1:c.*72+37_*72+38del	ENSP00000508229.1:n.*72+37_*72+38del
ENST00000683093.1:n.3818+37_3818+38del
ENST00000683136.1:c.3647+37_3647+38del	ENSP00000507768.1:n.3647+37_3647+38del
ENST00000683153.1:n.3875+37_3875+38del
ENST00000683365.1:n.3821+37_3821+38del
ENST00000683377.1:n.3719+37_3719+38del
ENST00000683456.1:c.*787+37_*787+38del	ENSP00000508318.1:n.*787+37_*787+38del
ENST00000683522.1:n.3719+37_3719+38del
ENST00000683562.1:c.*1819+37_*1819+38del	ENSP00000508265.1:n.*1819+37_*1819+38del
ENST00000683693.1:n.3796+37_3796+38del
ENST00000683725.1:c.3650+37_3650+38del	ENSP00000507496.1:n.3650+37_3650+38del
ENST00000684010.1:n.3714+37_3714+38del
ENST00000684157.1:n.3719+37_3719+38del
ENST00000684253.1:n.3622+37_3622+38del
ENST00000684288.1:c.*1822+37_*1822+38del	ENSP00000507143.1:n.*1822+37_*1822+38del
ENST00000684313.1:n.3151+37_3151+38del
ENST00000684332.1:n.3792+37_3792+38del
ENST00000684371.1:n.3825+37_3825+38del
ENST00000684404.1:n.3762+37_3762+38del
ENST00000684442.1:n.3719+37_3719+38del
ENST00000684555.1:c.*1862+37_*1862+38del	ENSP00000507705.1:n.*1862+37_*1862+38del
ENST00000684571.1:c.3491+37_3491+38del	ENSP00000506935.1:n.3491+37_3491+38del
ENST00000684593.1:c.*3355+37_*3355+38del	ENSP00000507005.1:n.*3355+37_*3355+38del
ENST00000684711.1:c.*2046+37_*2046+38del	ENSP00000506841.1:n.*2046+37_*2046+38del
ENST00000302539.9:c.3653+37_3653+38del	ENSP00000303960.4:n.3653+37_3653+38del
ENST00000389817.8:c.3650+37_3650+38del MANE Select	ENSP00000374467.4:n.3650+37_3650+38del
ENST00000642271.1:c.3647+37_3647+38del	ENSP00000493749.1:n.3647+37_3647+38del
ENST00000642579.1:c.1734+37_1734+38del
ENST00000642611.1:n.3604+37_3604+38del
ENST00000642902.1:c.3432+37_3432+38del
ENST00000643260.1:c.3650+37_3650+38del	ENSP00000494450.1:n.3650+37_3650+38del
ENST00000643562.1:c.*1626+37_*1626+38del	ENSP00000496124.1:n.*1626+37_*1626+38del
ENST00000643925.1:c.1774+37_1774+38del
ENST00000644447.1:c.2006+37_2006+38del	ENSP00000496282.1:n.2006+37_2006+38del
ENST00000644484.1:c.*1905+37_*1905+38del	ENSP00000493558.1:n.*1905+37_*1905+38del
ENST00000644675.1:c.*1822+37_*1822+38del	ENSP00000494567.1:n.*1822+37_*1822+38del
ENST00000644757.1:c.*1935+37_*1935+38del	ENSP00000495085.1:n.*1935+37_*1935+38del
ENST00000644772.1:c.3716+37_3716+38del	ENSP00000494321.1:n.3716+37_3716+38del
ENST00000645004.1:n.789+37_789+38del
ENST00000645076.1:c.2849+37_2849+38del
ENST00000645417.1:c.816+37_816+38del
ENST00000645744.1:c.*1914+37_*1914+38del	ENSP00000494564.1:n.*1914+37_*1914+38del
ENST00000645760.1:c.3925+37_3925+38del
ENST00000645884.1:c.*787+37_*787+38del	ENSP00000495516.1:n.*787+37_*787+38del
ENST00000646003.1:c.*1606+37_*1606+38del	ENSP00000495259.1:n.*1606+37_*1606+38del
ENST00000646207.1:c.*2117+37_*2117+38del	ENSP00000495025.1:n.*2117+37_*2117+38del
ENST00000646276.1:c.*1923+37_*1923+38del	ENSP00000496070.1:n.*1923+37_*1923+38del
ENST00000646592.1:c.2956+37_2956+38del
ENST00000646902.1:c.3647+37_3647+38del	ENSP00000494101.1:n.3647+37_3647+38del
ENST00000646993.1:c.*2046+37_*2046+38del	ENSP00000493720.1:n.*2046+37_*2046+38del
ENST00000647013.1:c.3656+37_3656+38del	ENSP00000496741.1:n.3656+37_3656+38del
ENST00000647015.1:c.3401+37_3401+38del	ENSP00000495389.1:n.3401+37_3401+38del
ENST00000647086.1:c.*3380+37_*3380+38del	ENSP00000493677.1:n.*3380+37_*3380+38del
ENST00000647158.1:c.*1791+37_*1791+38del	ENSP00000495744.1:n.*1791+37_*1791+38del
ENST00000302539.8:c.3653+37_3653+38del	ENSP00000303960.4:n.3653+37_3653+38del
ENST00000389817.7:c.3650+37_3650+38del	ENSP00000374467.3:n.3650+37_3650+38del
ENST00000527905.5:c.*526+37_*526+38del	ENSP00000431653.1:n.*526+37_*526+38del
ENST00000528374.1:c.120+37_120+38del
ENST00000531137.1:n.143+37_143+38del
ENST00000531891.1:c.18+37_18+38del
NM_000352.4:c.3650+37_3650+38del	NP_000343.2:n.3650+37_3650+38del
NM_001287174.1:c.3653+37_3653+38del	NP_001274103.1:n.3653+37_3653+38del
XM_011520331.1:c.3650+37_3650+38del	XP_011518633.1:n.3650+37_3650+38del
XM_011520332.1:c.3653+37_3653+38del	XP_011518634.1:n.3653+37_3653+38del
XM_011520333.1:c.2150+37_2150+38del	XP_011518635.1:n.2150+37_2150+38del
XR_930890.1:n.3716+37_3716+38del
XR_930892.1:n.3616+37_3616+38del
XR_930893.1:n.3613+37_3613+38del
NM_001351295.1:c.3716+37_3716+38del	NP_001338224.1:n.3716+37_3716+38del
NM_001351296.1:c.3650+37_3650+38del	NP_001338225.1:n.3650+37_3650+38del
NM_001351297.1:c.3647+37_3647+38del	NP_001338226.1:n.3647+37_3647+38del
NR_147094.1:n.3799+37_3799+38del
XM_017018197.2:c.3719+37_3719+38del	XP_016873686.1:n.3719+37_3719+38del
XM_017018199.1:c.3716+37_3716+38del	XP_016873688.1:n.3716+37_3716+38del
XM_017018201.2:c.3719+37_3719+38del	XP_016873690.1:n.3719+37_3719+38del
XM_017018202.1:c.2216+37_2216+38del	XP_016873691.1:n.2216+37_2216+38del
XM_017018204.1:c.1607+37_1607+38del	XP_016873693.1:n.1607+37_1607+38del
XM_024448668.1:c.2018+37_2018+38del	XP_024304436.1:n.2018+37_2018+38del
XR_001747945.2:n.3791+37_3791+38del
XR_001747946.2:n.3722+37_3722+38del
XR_002957189.1:n.3871+37_3871+38del
NM_000352.6:c.3650+37_3650+38del MANE Select	NP_000343.2:n.3650+37_3650+38del
NM_001287174.2:c.3653+37_3653+38del	NP_001274103.1:n.3653+37_3653+38del
NM_001351295.2:c.3716+37_3716+38del	NP_001338224.1:n.3716+37_3716+38del
NM_001351296.2:c.3650+37_3650+38del	NP_001338225.1:n.3650+37_3650+38del
NM_001351297.2:c.3647+37_3647+38del	NP_001338226.1:n.3647+37_3647+38del
NR_147094.2:n.3799+37_3799+38del
NM_001287174.3:c.3653+37_3653+38del	NP_001274103.1:n.3653+37_3653+38del