Canonical Allele Identifier: CA2612664345

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17428027-T-TGAAAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428028_17428035dup , CM000673.2:g.17428028_17428035dup	GRCh38
NC_000011.9:g.17449575_17449582dup , CM000673.1:g.17449575_17449582dup	GRCh37
NC_000011.8:g.17406151_17406158dup	NCBI36
NG_008867.1:g.53868_53875dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1710-93_1710-86dup
ENST00000529967.6:n.300-93_300-86dup
ENST00000642611.2:n.2107-93_2107-86dup
ENST00000682051.1:n.2054-93_2054-86dup
ENST00000682110.1:n.2107-93_2107-86dup
ENST00000682140.1:c.2038-93_2038-86dup	ENSP00000507829.1:n.2038-93_2038-86dup
ENST00000682185.1:n.3346-93_3346-86dup
ENST00000682204.1:c.*179-93_*179-86dup	ENSP00000507094.1:n.*179-93_*179-86dup
ENST00000682215.1:n.2107-93_2107-86dup
ENST00000682288.1:c.*469-93_*469-86dup	ENSP00000507506.1:n.*469-93_*469-86dup
ENST00000682442.1:n.2228-93_2228-86dup
ENST00000682528.1:n.2107-93_2107-86dup
ENST00000682673.1:n.2054-93_2054-86dup
ENST00000682805.1:n.2107-93_2107-86dup
ENST00000682965.1:c.2038-93_2038-86dup	ENSP00000508229.1:n.2038-93_2038-86dup
ENST00000683093.1:n.2209-93_2209-86dup
ENST00000683136.1:c.2038-93_2038-86dup	ENSP00000507768.1:n.2038-93_2038-86dup
ENST00000683153.1:n.2266-93_2266-86dup
ENST00000683253.1:n.3123-93_3123-86dup
ENST00000683365.1:n.2209-93_2209-86dup
ENST00000683377.1:n.2107-93_2107-86dup
ENST00000683456.1:c.2038-93_2038-86dup	ENSP00000508318.1:n.2038-93_2038-86dup
ENST00000683522.1:n.2107-93_2107-86dup
ENST00000683562.1:c.*210-93_*210-86dup	ENSP00000508265.1:n.*210-93_*210-86dup
ENST00000683693.1:n.2107-93_2107-86dup
ENST00000683725.1:c.2041-93_2041-86dup	ENSP00000507496.1:n.2041-93_2041-86dup
ENST00000684010.1:n.2107-93_2107-86dup
ENST00000684157.1:n.2107-93_2107-86dup
ENST00000684253.1:n.2013-93_2013-86dup
ENST00000684288.1:c.*210-93_*210-86dup	ENSP00000507143.1:n.*210-93_*210-86dup
ENST00000684313.1:n.1724-11073_1724-11066dup
ENST00000684332.1:n.2180-93_2180-86dup
ENST00000684371.1:n.2213-93_2213-86dup
ENST00000684404.1:n.2107-93_2107-86dup
ENST00000684442.1:n.2107-93_2107-86dup
ENST00000684555.1:c.*250-93_*250-86dup	ENSP00000507705.1:n.*250-93_*250-86dup
ENST00000684571.1:c.1882-93_1882-86dup	ENSP00000506935.1:n.1882-93_1882-86dup
ENST00000684593.1:c.*1746-93_*1746-86dup	ENSP00000507005.1:n.*1746-93_*1746-86dup
ENST00000684711.1:c.*437-93_*437-86dup	ENSP00000506841.1:n.*437-93_*437-86dup
ENST00000302539.9:c.2041-93_2041-86dup	ENSP00000303960.4:n.2041-93_2041-86dup
ENST00000389817.8:c.2041-93_2041-86dup MANE Select	ENSP00000374467.4:n.2041-93_2041-86dup
ENST00000532728.6:c.1622-93_1622-86dup
ENST00000642271.1:c.2038-93_2038-86dup	ENSP00000493749.1:n.2038-93_2038-86dup
ENST00000642579.1:c.122-93_122-86dup
ENST00000642611.1:n.1992-93_1992-86dup
ENST00000642902.1:c.1876-93_1876-86dup
ENST00000643260.1:c.2038-93_2038-86dup	ENSP00000494450.1:n.2038-93_2038-86dup
ENST00000643562.1:c.*17-93_*17-86dup	ENSP00000496124.1:n.*17-93_*17-86dup
ENST00000644447.1:c.394-93_394-86dup	ENSP00000496282.1:n.394-93_394-86dup
ENST00000644472.1:c.*402-93_*402-86dup	ENSP00000495378.1:n.*402-93_*402-86dup
ENST00000644484.1:c.*250-93_*250-86dup	ENSP00000493558.1:n.*250-93_*250-86dup
ENST00000644542.1:c.*1743-93_*1743-86dup	ENSP00000495532.1:n.*1743-93_*1743-86dup
ENST00000644649.1:c.1211-93_1211-86dup
ENST00000644675.1:c.*210-93_*210-86dup	ENSP00000494567.1:n.*210-93_*210-86dup
ENST00000644757.1:c.*343-93_*343-86dup	ENSP00000495085.1:n.*343-93_*343-86dup
ENST00000644772.1:c.2107-93_2107-86dup	ENSP00000494321.1:n.2107-93_2107-86dup
ENST00000645076.1:c.1293-93_1293-86dup
ENST00000645744.1:c.*402-93_*402-86dup	ENSP00000494564.1:n.*402-93_*402-86dup
ENST00000645760.1:c.2316-93_2316-86dup
ENST00000645884.1:c.2038-93_2038-86dup	ENSP00000495516.1:n.2038-93_2038-86dup
ENST00000646003.1:c.*179-93_*179-86dup	ENSP00000495259.1:n.*179-93_*179-86dup
ENST00000646207.1:c.*402-93_*402-86dup	ENSP00000495025.1:n.*402-93_*402-86dup
ENST00000646276.1:c.*311-93_*311-86dup	ENSP00000496070.1:n.*311-93_*311-86dup
ENST00000646592.1:c.1264-93_1264-86dup
ENST00000646902.1:c.2038-93_2038-86dup	ENSP00000494101.1:n.2038-93_2038-86dup
ENST00000646993.1:c.*437-93_*437-86dup	ENSP00000493720.1:n.*437-93_*437-86dup
ENST00000647013.1:c.2044-93_2044-86dup	ENSP00000496741.1:n.2044-93_2044-86dup
ENST00000647015.1:c.1789-93_1789-86dup	ENSP00000495389.1:n.1789-93_1789-86dup
ENST00000647086.1:c.*1768-93_*1768-86dup	ENSP00000493677.1:n.*1768-93_*1768-86dup
ENST00000647158.1:c.*179-93_*179-86dup	ENSP00000495744.1:n.*179-93_*179-86dup
ENST00000302539.8:c.2041-93_2041-86dup	ENSP00000303960.4:n.2041-93_2041-86dup
ENST00000389817.7:c.2041-93_2041-86dup	ENSP00000374467.3:n.2041-93_2041-86dup
ENST00000527905.5:c.2011-93_2011-86dup	ENSP00000431653.1:n.2011-93_2011-86dup
ENST00000531911.1:n.59_66dup
NM_000352.4:c.2041-93_2041-86dup	NP_000343.2:n.2041-93_2041-86dup
NM_001287174.1:c.2041-93_2041-86dup	NP_001274103.1:n.2041-93_2041-86dup
XM_011520331.1:c.2038-93_2038-86dup	XP_011518633.1:n.2038-93_2038-86dup
XM_011520332.1:c.2041-93_2041-86dup	XP_011518634.1:n.2041-93_2041-86dup
XM_011520333.1:c.538-93_538-86dup	XP_011518635.1:n.538-93_538-86dup
XM_011520334.1:c.2041-93_2041-86dup	XP_011518636.1:n.2041-93_2041-86dup
XR_930890.1:n.2104-93_2104-86dup
XR_930891.1:n.2104-93_2104-86dup
XR_930892.1:n.2104-93_2104-86dup
XR_930893.1:n.2104-93_2104-86dup
NM_001351295.1:c.2107-93_2107-86dup	NP_001338224.1:n.2107-93_2107-86dup
NM_001351296.1:c.2038-93_2038-86dup	NP_001338225.1:n.2038-93_2038-86dup
NM_001351297.1:c.2038-93_2038-86dup	NP_001338226.1:n.2038-93_2038-86dup
NR_147094.1:n.2107-93_2107-86dup
XM_017018197.2:c.2107-93_2107-86dup	XP_016873686.1:n.2107-93_2107-86dup
XM_017018199.1:c.2104-93_2104-86dup	XP_016873688.1:n.2104-93_2104-86dup
XM_017018201.2:c.2107-93_2107-86dup	XP_016873690.1:n.2107-93_2107-86dup
XM_017018202.1:c.604-93_604-86dup	XP_016873691.1:n.604-93_604-86dup
XM_017018204.1:c.-3-93_-3-86dup	XP_016873693.1:n.-3-93_-3-86dup
XM_024448668.1:c.406-93_406-86dup	XP_024304436.1:n.406-93_406-86dup
XR_001747945.2:n.2179-93_2179-86dup
XR_001747946.2:n.2113-93_2113-86dup
XR_002957189.1:n.2179-93_2179-86dup
NM_000352.6:c.2041-93_2041-86dup MANE Select	NP_000343.2:n.2041-93_2041-86dup
NM_001287174.2:c.2041-93_2041-86dup	NP_001274103.1:n.2041-93_2041-86dup
NM_001351295.2:c.2107-93_2107-86dup	NP_001338224.1:n.2107-93_2107-86dup
NM_001351296.2:c.2038-93_2038-86dup	NP_001338225.1:n.2038-93_2038-86dup
NM_001351297.2:c.2038-93_2038-86dup	NP_001338226.1:n.2038-93_2038-86dup
NR_147094.2:n.2107-93_2107-86dup
NM_001287174.3:c.2041-93_2041-86dup	NP_001274103.1:n.2041-93_2041-86dup