Canonical Allele Identifier: CA2612664602

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17428433-ACTGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428439_17428443del , CM000673.2:g.17428439_17428443del	GRCh38
NC_000011.9:g.17449986_17449990del , CM000673.1:g.17449986_17449990del	GRCh37
NC_000011.8:g.17406562_17406566del	NCBI36
NG_008867.1:g.53465_53469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1593-33_1593-29del
ENST00000529967.6:n.150_154del
ENST00000642611.2:n.1990-33_1990-29del
ENST00000682051.1:n.1937-33_1937-29del
ENST00000682110.1:n.1990-33_1990-29del
ENST00000682140.1:c.1921-33_1921-29del	ENSP00000507829.1:n.1921-33_1921-29del
ENST00000682185.1:n.3229-33_3229-29del
ENST00000682204.1:c.*62-33_*62-29del	ENSP00000507094.1:n.*62-33_*62-29del
ENST00000682215.1:n.1990-33_1990-29del
ENST00000682288.1:c.*352-33_*352-29del	ENSP00000507506.1:n.*352-33_*352-29del
ENST00000682442.1:n.2111-33_2111-29del
ENST00000682528.1:n.1990-33_1990-29del
ENST00000682673.1:n.1937-33_1937-29del
ENST00000682805.1:n.1990-33_1990-29del
ENST00000682965.1:c.1921-33_1921-29del	ENSP00000508229.1:n.1921-33_1921-29del
ENST00000683093.1:n.2092-33_2092-29del
ENST00000683136.1:c.1921-33_1921-29del	ENSP00000507768.1:n.1921-33_1921-29del
ENST00000683153.1:n.2116_2120del
ENST00000683253.1:n.3006-33_3006-29del
ENST00000683365.1:n.2092-33_2092-29del
ENST00000683377.1:n.1990-33_1990-29del
ENST00000683456.1:c.1921-33_1921-29del	ENSP00000508318.1:n.1921-33_1921-29del
ENST00000683522.1:n.1990-33_1990-29del
ENST00000683562.1:c.*93-33_*93-29del	ENSP00000508265.1:n.*93-33_*93-29del
ENST00000683693.1:n.1990-33_1990-29del
ENST00000683725.1:c.1924-33_1924-29del	ENSP00000507496.1:n.1924-33_1924-29del
ENST00000684010.1:n.1990-33_1990-29del
ENST00000684157.1:n.1990-33_1990-29del
ENST00000684253.1:n.1896-33_1896-29del
ENST00000684288.1:c.*93-33_*93-29del	ENSP00000507143.1:n.*93-33_*93-29del
ENST00000684313.1:n.1724-11476_1724-11472del
ENST00000684332.1:n.2063-33_2063-29del
ENST00000684371.1:n.2063_2067del
ENST00000684404.1:n.1990-33_1990-29del
ENST00000684442.1:n.1990-33_1990-29del
ENST00000684555.1:c.*133-33_*133-29del	ENSP00000507705.1:n.*133-33_*133-29del
ENST00000684571.1:c.1765-33_1765-29del	ENSP00000506935.1:n.1765-33_1765-29del
ENST00000684593.1:c.*1629-33_*1629-29del	ENSP00000507005.1:n.*1629-33_*1629-29del
ENST00000684711.1:c.*320-33_*320-29del	ENSP00000506841.1:n.*320-33_*320-29del
ENST00000302539.9:c.1924-33_1924-29del	ENSP00000303960.4:n.1924-33_1924-29del
ENST00000389817.8:c.1924-33_1924-29del MANE Select	ENSP00000374467.4:n.1924-33_1924-29del
ENST00000532728.6:c.1505-33_1505-29del
ENST00000642271.1:c.1921-33_1921-29del	ENSP00000493749.1:n.1921-33_1921-29del
ENST00000642579.1:c.5-33_5-29del
ENST00000642611.1:n.1875-33_1875-29del
ENST00000642902.1:c.1759-33_1759-29del
ENST00000643260.1:c.1921-33_1921-29del	ENSP00000494450.1:n.1921-33_1921-29del
ENST00000643562.1:c.1924-41_1924-37del	ENSP00000496124.1:n.1924-41_1924-37del
ENST00000644447.1:c.277-33_277-29del	ENSP00000496282.1:n.277-33_277-29del
ENST00000644472.1:c.*285-33_*285-29del	ENSP00000495378.1:n.*285-33_*285-29del
ENST00000644484.1:c.*133-33_*133-29del	ENSP00000493558.1:n.*133-33_*133-29del
ENST00000644542.1:c.*1626-33_*1626-29del	ENSP00000495532.1:n.*1626-33_*1626-29del
ENST00000644649.1:c.1094-33_1094-29del
ENST00000644675.1:c.*93-33_*93-29del	ENSP00000494567.1:n.*93-33_*93-29del
ENST00000644757.1:c.*226-33_*226-29del	ENSP00000495085.1:n.*226-33_*226-29del
ENST00000644772.1:c.1957_1961del	ENSP00000494321.1:p.Pro653TrpfsTer?
ENST00000645076.1:c.1176-33_1176-29del
ENST00000645744.1:c.*285-33_*285-29del	ENSP00000494564.1:n.*285-33_*285-29del
ENST00000645760.1:c.2199-33_2199-29del
ENST00000645884.1:c.1921-33_1921-29del	ENSP00000495516.1:n.1921-33_1921-29del
ENST00000646003.1:c.*62-33_*62-29del	ENSP00000495259.1:n.*62-33_*62-29del
ENST00000646207.1:c.*285-33_*285-29del	ENSP00000495025.1:n.*285-33_*285-29del
ENST00000646276.1:c.*194-33_*194-29del	ENSP00000496070.1:n.*194-33_*194-29del
ENST00000646592.1:c.1114_1118del
ENST00000646902.1:c.1921-33_1921-29del	ENSP00000494101.1:n.1921-33_1921-29del
ENST00000646993.1:c.*320-33_*320-29del	ENSP00000493720.1:n.*320-33_*320-29del
ENST00000647013.1:c.1927-33_1927-29del	ENSP00000496741.1:n.1927-33_1927-29del
ENST00000647015.1:c.1672-33_1672-29del	ENSP00000495389.1:n.1672-33_1672-29del
ENST00000647086.1:c.*1651-33_*1651-29del	ENSP00000493677.1:n.*1651-33_*1651-29del
ENST00000647158.1:c.*62-33_*62-29del	ENSP00000495744.1:n.*62-33_*62-29del
ENST00000302539.8:c.1924-33_1924-29del	ENSP00000303960.4:n.1924-33_1924-29del
ENST00000389817.7:c.1924-33_1924-29del	ENSP00000374467.3:n.1924-33_1924-29del
ENST00000527905.5:c.1894-33_1894-29del	ENSP00000431653.1:n.1894-33_1894-29del
NM_000352.4:c.1924-33_1924-29del	NP_000343.2:n.1924-33_1924-29del
NM_001287174.1:c.1924-33_1924-29del	NP_001274103.1:n.1924-33_1924-29del
XM_011520331.1:c.1921-33_1921-29del	XP_011518633.1:n.1921-33_1921-29del
XM_011520332.1:c.1924-33_1924-29del	XP_011518634.1:n.1924-33_1924-29del
XM_011520333.1:c.421-33_421-29del	XP_011518635.1:n.421-33_421-29del
XM_011520334.1:c.1924-33_1924-29del	XP_011518636.1:n.1924-33_1924-29del
XR_930890.1:n.1987-33_1987-29del
XR_930891.1:n.1987-33_1987-29del
XR_930892.1:n.1987-33_1987-29del
XR_930893.1:n.1987-33_1987-29del
NM_001351295.1:c.1957_1961del	NP_001338224.1:p.Pro653TrpfsTer?
NM_001351296.1:c.1921-33_1921-29del	NP_001338225.1:n.1921-33_1921-29del
NM_001351297.1:c.1921-33_1921-29del	NP_001338226.1:n.1921-33_1921-29del
NR_147094.1:n.1990-33_1990-29del
XM_017018197.2:c.1957_1961del	XP_016873686.1:p.Pro653TrpfsTer?
XM_017018199.1:c.1954_1958del	XP_016873688.1:p.Pro652TrpfsTer?
XM_017018201.2:c.1957_1961del	XP_016873690.1:p.Pro653TrpfsTer?
XM_017018202.1:c.454_458del	XP_016873691.1:p.Pro152TrpfsTer?
XM_017018204.1:c.-120-33_-120-29del	XP_016873693.1:n.-120-33_-120-29del
XM_024448668.1:c.289-33_289-29del	XP_024304436.1:n.289-33_289-29del
XR_001747945.2:n.2029_2033del
XR_001747946.2:n.1996-33_1996-29del
XR_002957189.1:n.2029_2033del
NM_000352.6:c.1924-33_1924-29del MANE Select	NP_000343.2:n.1924-33_1924-29del
NM_001287174.2:c.1924-33_1924-29del	NP_001274103.1:n.1924-33_1924-29del
NM_001351295.2:c.1957_1961del	NP_001338224.1:p.Pro653TrpfsTer?
NM_001351296.2:c.1921-33_1921-29del	NP_001338225.1:n.1921-33_1921-29del
NM_001351297.2:c.1921-33_1921-29del	NP_001338226.1:n.1921-33_1921-29del
NR_147094.2:n.1990-33_1990-29del
NM_001287174.3:c.1924-33_1924-29del	NP_001274103.1:n.1924-33_1924-29del