Canonical Allele Identifier: CA2612664440

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17428101-GCTGACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428104_17428109del , CM000673.2:g.17428104_17428109del	GRCh38
NC_000011.9:g.17449651_17449656del , CM000673.1:g.17449651_17449656del	GRCh37
NC_000011.8:g.17406227_17406232del	NCBI36
NG_008867.1:g.53796_53801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1710-165_1710-160del
ENST00000529967.6:n.300-165_300-160del
ENST00000642611.2:n.2107-165_2107-160del
ENST00000682051.1:n.2054-165_2054-160del
ENST00000682110.1:n.2107-165_2107-160del
ENST00000682140.1:c.2038-165_2038-160del	ENSP00000507829.1:n.2038-165_2038-160del
ENST00000682185.1:n.3346-165_3346-160del
ENST00000682204.1:c.*179-165_*179-160del	ENSP00000507094.1:n.*179-165_*179-160del
ENST00000682215.1:n.2107-165_2107-160del
ENST00000682288.1:c.*469-165_*469-160del	ENSP00000507506.1:n.*469-165_*469-160del
ENST00000682442.1:n.2228-165_2228-160del
ENST00000682528.1:n.2107-165_2107-160del
ENST00000682673.1:n.2054-165_2054-160del
ENST00000682805.1:n.2107-165_2107-160del
ENST00000682965.1:c.2038-165_2038-160del	ENSP00000508229.1:n.2038-165_2038-160del
ENST00000683093.1:n.2209-165_2209-160del
ENST00000683136.1:c.2038-165_2038-160del	ENSP00000507768.1:n.2038-165_2038-160del
ENST00000683153.1:n.2266-165_2266-160del
ENST00000683253.1:n.3123-165_3123-160del
ENST00000683365.1:n.2209-165_2209-160del
ENST00000683377.1:n.2107-165_2107-160del
ENST00000683456.1:c.2038-165_2038-160del	ENSP00000508318.1:n.2038-165_2038-160del
ENST00000683522.1:n.2107-165_2107-160del
ENST00000683562.1:c.*210-165_*210-160del	ENSP00000508265.1:n.*210-165_*210-160del
ENST00000683693.1:n.2107-165_2107-160del
ENST00000683725.1:c.2041-165_2041-160del	ENSP00000507496.1:n.2041-165_2041-160del
ENST00000684010.1:n.2107-165_2107-160del
ENST00000684157.1:n.2107-165_2107-160del
ENST00000684253.1:n.2013-165_2013-160del
ENST00000684288.1:c.*210-165_*210-160del	ENSP00000507143.1:n.*210-165_*210-160del
ENST00000684313.1:n.1724-11145_1724-11140del
ENST00000684332.1:n.2180-165_2180-160del
ENST00000684371.1:n.2213-165_2213-160del
ENST00000684404.1:n.2107-165_2107-160del
ENST00000684442.1:n.2107-165_2107-160del
ENST00000684555.1:c.*250-165_*250-160del	ENSP00000507705.1:n.*250-165_*250-160del
ENST00000684571.1:c.1882-165_1882-160del	ENSP00000506935.1:n.1882-165_1882-160del
ENST00000684593.1:c.*1746-165_*1746-160del	ENSP00000507005.1:n.*1746-165_*1746-160del
ENST00000684711.1:c.*437-165_*437-160del	ENSP00000506841.1:n.*437-165_*437-160del
ENST00000302539.9:c.2041-165_2041-160del	ENSP00000303960.4:n.2041-165_2041-160del
ENST00000389817.8:c.2041-165_2041-160del MANE Select	ENSP00000374467.4:n.2041-165_2041-160del
ENST00000532728.6:c.1622-165_1622-160del
ENST00000642271.1:c.2038-165_2038-160del	ENSP00000493749.1:n.2038-165_2038-160del
ENST00000642579.1:c.122-165_122-160del
ENST00000642611.1:n.1992-165_1992-160del
ENST00000642902.1:c.1876-165_1876-160del
ENST00000643260.1:c.2038-165_2038-160del	ENSP00000494450.1:n.2038-165_2038-160del
ENST00000643562.1:c.*17-165_*17-160del	ENSP00000496124.1:n.*17-165_*17-160del
ENST00000644447.1:c.394-165_394-160del	ENSP00000496282.1:n.394-165_394-160del
ENST00000644472.1:c.*402-165_*402-160del	ENSP00000495378.1:n.*402-165_*402-160del
ENST00000644484.1:c.*250-165_*250-160del	ENSP00000493558.1:n.*250-165_*250-160del
ENST00000644542.1:c.*1743-165_*1743-160del	ENSP00000495532.1:n.*1743-165_*1743-160del
ENST00000644649.1:c.1211-165_1211-160del
ENST00000644675.1:c.*210-165_*210-160del	ENSP00000494567.1:n.*210-165_*210-160del
ENST00000644757.1:c.*343-165_*343-160del	ENSP00000495085.1:n.*343-165_*343-160del
ENST00000644772.1:c.2107-165_2107-160del	ENSP00000494321.1:n.2107-165_2107-160del
ENST00000645076.1:c.1293-165_1293-160del
ENST00000645744.1:c.*402-165_*402-160del	ENSP00000494564.1:n.*402-165_*402-160del
ENST00000645760.1:c.2316-165_2316-160del
ENST00000645884.1:c.2038-165_2038-160del	ENSP00000495516.1:n.2038-165_2038-160del
ENST00000646003.1:c.*179-165_*179-160del	ENSP00000495259.1:n.*179-165_*179-160del
ENST00000646207.1:c.*402-165_*402-160del	ENSP00000495025.1:n.*402-165_*402-160del
ENST00000646276.1:c.*311-165_*311-160del	ENSP00000496070.1:n.*311-165_*311-160del
ENST00000646592.1:c.1264-165_1264-160del
ENST00000646902.1:c.2038-165_2038-160del	ENSP00000494101.1:n.2038-165_2038-160del
ENST00000646993.1:c.*437-165_*437-160del	ENSP00000493720.1:n.*437-165_*437-160del
ENST00000647013.1:c.2044-165_2044-160del	ENSP00000496741.1:n.2044-165_2044-160del
ENST00000647015.1:c.1789-165_1789-160del	ENSP00000495389.1:n.1789-165_1789-160del
ENST00000647086.1:c.*1768-165_*1768-160del	ENSP00000493677.1:n.*1768-165_*1768-160del
ENST00000647158.1:c.*179-165_*179-160del	ENSP00000495744.1:n.*179-165_*179-160del
ENST00000302539.8:c.2041-165_2041-160del	ENSP00000303960.4:n.2041-165_2041-160del
ENST00000389817.7:c.2041-165_2041-160del	ENSP00000374467.3:n.2041-165_2041-160del
ENST00000527905.5:c.2011-165_2011-160del	ENSP00000431653.1:n.2011-165_2011-160del
NM_000352.4:c.2041-165_2041-160del	NP_000343.2:n.2041-165_2041-160del
NM_001287174.1:c.2041-165_2041-160del	NP_001274103.1:n.2041-165_2041-160del
XM_011520331.1:c.2038-165_2038-160del	XP_011518633.1:n.2038-165_2038-160del
XM_011520332.1:c.2041-165_2041-160del	XP_011518634.1:n.2041-165_2041-160del
XM_011520333.1:c.538-165_538-160del	XP_011518635.1:n.538-165_538-160del
XM_011520334.1:c.2041-165_2041-160del	XP_011518636.1:n.2041-165_2041-160del
XR_930890.1:n.2104-165_2104-160del
XR_930891.1:n.2104-165_2104-160del
XR_930892.1:n.2104-165_2104-160del
XR_930893.1:n.2104-165_2104-160del
NM_001351295.1:c.2107-165_2107-160del	NP_001338224.1:n.2107-165_2107-160del
NM_001351296.1:c.2038-165_2038-160del	NP_001338225.1:n.2038-165_2038-160del
NM_001351297.1:c.2038-165_2038-160del	NP_001338226.1:n.2038-165_2038-160del
NR_147094.1:n.2107-165_2107-160del
XM_017018197.2:c.2107-165_2107-160del	XP_016873686.1:n.2107-165_2107-160del
XM_017018199.1:c.2104-165_2104-160del	XP_016873688.1:n.2104-165_2104-160del
XM_017018201.2:c.2107-165_2107-160del	XP_016873690.1:n.2107-165_2107-160del
XM_017018202.1:c.604-165_604-160del	XP_016873691.1:n.604-165_604-160del
XM_017018204.1:c.-3-165_-3-160del	XP_016873693.1:n.-3-165_-3-160del
XM_024448668.1:c.406-165_406-160del	XP_024304436.1:n.406-165_406-160del
XR_001747945.2:n.2179-165_2179-160del
XR_001747946.2:n.2113-165_2113-160del
XR_002957189.1:n.2179-165_2179-160del
NM_000352.6:c.2041-165_2041-160del MANE Select	NP_000343.2:n.2041-165_2041-160del
NM_001287174.2:c.2041-165_2041-160del	NP_001274103.1:n.2041-165_2041-160del
NM_001351295.2:c.2107-165_2107-160del	NP_001338224.1:n.2107-165_2107-160del
NM_001351296.2:c.2038-165_2038-160del	NP_001338225.1:n.2038-165_2038-160del
NM_001351297.2:c.2038-165_2038-160del	NP_001338226.1:n.2038-165_2038-160del
NR_147094.2:n.2107-165_2107-160del
NM_001287174.3:c.2041-165_2041-160del	NP_001274103.1:n.2041-165_2041-160del