Canonical Allele Identifier: CA2612661184

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404686-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404692_17404693dup , CM000673.2:g.17404692_17404693dup	GRCh38
NC_000011.9:g.17426239_17426240dup , CM000673.1:g.17426239_17426240dup	GRCh37
NC_000011.8:g.17382815_17382816dup	NCBI36
NG_008867.1:g.77215_77216dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2969-19_2969-18dup
ENST00000529967.6:n.1739-19_1739-18dup
ENST00000532220.2:n.1132-19_1132-18dup
ENST00000642611.2:n.3469-19_3469-18dup
ENST00000645004.2:n.899-19_899-18dup
ENST00000682051.1:n.3416-19_3416-18dup
ENST00000682110.1:n.3469-19_3469-18dup
ENST00000682140.1:c.3397-19_3397-18dup	ENSP00000507829.1:n.3397-19_3397-18dup
ENST00000682185.1:n.4705-19_4705-18dup
ENST00000682204.1:c.*1538-19_*1538-18dup	ENSP00000507094.1:n.*1538-19_*1538-18dup
ENST00000682215.1:n.3466-19_3466-18dup
ENST00000682288.1:c.*1831-19_*1831-18dup	ENSP00000507506.1:n.*1831-19_*1831-18dup
ENST00000682442.1:n.3689-19_3689-18dup
ENST00000682528.1:n.3546-19_3546-18dup
ENST00000682673.1:n.3413-19_3413-18dup
ENST00000682805.1:n.3466-19_3466-18dup
ENST00000682965.1:c.3396+806_3396+807dup	ENSP00000508229.1:n.3396+806_3396+807dup
ENST00000683093.1:n.3568-19_3568-18dup
ENST00000683136.1:c.3397-19_3397-18dup	ENSP00000507768.1:n.3397-19_3397-18dup
ENST00000683153.1:n.3625-19_3625-18dup
ENST00000683365.1:n.3571-19_3571-18dup
ENST00000683377.1:n.3469-19_3469-18dup
ENST00000683456.1:c.*537-19_*537-18dup	ENSP00000508318.1:n.*537-19_*537-18dup
ENST00000683522.1:n.3469-19_3469-18dup
ENST00000683562.1:c.*1569-19_*1569-18dup	ENSP00000508265.1:n.*1569-19_*1569-18dup
ENST00000683693.1:n.3546-19_3546-18dup
ENST00000683725.1:c.3400-19_3400-18dup	ENSP00000507496.1:n.3400-19_3400-18dup
ENST00000684010.1:n.3464-19_3464-18dup
ENST00000684157.1:n.3469-19_3469-18dup
ENST00000684253.1:n.3372-19_3372-18dup
ENST00000684288.1:c.*1572-19_*1572-18dup	ENSP00000507143.1:n.*1572-19_*1572-18dup
ENST00000684313.1:n.2901-19_2901-18dup
ENST00000684332.1:n.3542-19_3542-18dup
ENST00000684371.1:n.3575-19_3575-18dup
ENST00000684404.1:n.3512-19_3512-18dup
ENST00000684442.1:n.3469-19_3469-18dup
ENST00000684555.1:c.*1612-19_*1612-18dup	ENSP00000507705.1:n.*1612-19_*1612-18dup
ENST00000684571.1:c.3241-19_3241-18dup	ENSP00000506935.1:n.3241-19_3241-18dup
ENST00000684593.1:c.*3105-19_*3105-18dup	ENSP00000507005.1:n.*3105-19_*3105-18dup
ENST00000684711.1:c.*1796-19_*1796-18dup	ENSP00000506841.1:n.*1796-19_*1796-18dup
ENST00000302539.9:c.3403-19_3403-18dup	ENSP00000303960.4:n.3403-19_3403-18dup
ENST00000389817.8:c.3400-19_3400-18dup MANE Select	ENSP00000374467.4:n.3400-19_3400-18dup
ENST00000642271.1:c.3397-19_3397-18dup	ENSP00000493749.1:n.3397-19_3397-18dup
ENST00000642579.1:c.1484-19_1484-18dup
ENST00000642611.1:n.3354-19_3354-18dup
ENST00000642902.1:c.3182-19_3182-18dup
ENST00000643260.1:c.3400-19_3400-18dup	ENSP00000494450.1:n.3400-19_3400-18dup
ENST00000643562.1:c.*1376-19_*1376-18dup	ENSP00000496124.1:n.*1376-19_*1376-18dup
ENST00000643925.1:c.1524-19_1524-18dup
ENST00000644447.1:c.1756-19_1756-18dup	ENSP00000496282.1:n.1756-19_1756-18dup
ENST00000644484.1:c.*1655-19_*1655-18dup	ENSP00000493558.1:n.*1655-19_*1655-18dup
ENST00000644675.1:c.*1572-19_*1572-18dup	ENSP00000494567.1:n.*1572-19_*1572-18dup
ENST00000644757.1:c.*1685-19_*1685-18dup	ENSP00000495085.1:n.*1685-19_*1685-18dup
ENST00000644772.1:c.3466-19_3466-18dup	ENSP00000494321.1:n.3466-19_3466-18dup
ENST00000645004.1:n.539-19_539-18dup
ENST00000645076.1:c.2599-19_2599-18dup
ENST00000645417.1:c.566-19_566-18dup
ENST00000645744.1:c.*1664-19_*1664-18dup	ENSP00000494564.1:n.*1664-19_*1664-18dup
ENST00000645760.1:c.3675-19_3675-18dup
ENST00000645884.1:c.*537-19_*537-18dup	ENSP00000495516.1:n.*537-19_*537-18dup
ENST00000646003.1:c.*1356-19_*1356-18dup	ENSP00000495259.1:n.*1356-19_*1356-18dup
ENST00000646207.1:c.*1867-19_*1867-18dup	ENSP00000495025.1:n.*1867-19_*1867-18dup
ENST00000646276.1:c.*1673-19_*1673-18dup	ENSP00000496070.1:n.*1673-19_*1673-18dup
ENST00000646592.1:c.2706-19_2706-18dup
ENST00000646902.1:c.3397-19_3397-18dup	ENSP00000494101.1:n.3397-19_3397-18dup
ENST00000646993.1:c.*1796-19_*1796-18dup	ENSP00000493720.1:n.*1796-19_*1796-18dup
ENST00000647013.1:c.3406-19_3406-18dup	ENSP00000496741.1:n.3406-19_3406-18dup
ENST00000647015.1:c.3151-19_3151-18dup	ENSP00000495389.1:n.3151-19_3151-18dup
ENST00000647086.1:c.*3130-19_*3130-18dup	ENSP00000493677.1:n.*3130-19_*3130-18dup
ENST00000647158.1:c.*1541-19_*1541-18dup	ENSP00000495744.1:n.*1541-19_*1541-18dup
ENST00000302539.8:c.3403-19_3403-18dup	ENSP00000303960.4:n.3403-19_3403-18dup
ENST00000389817.7:c.3400-19_3400-18dup	ENSP00000374467.3:n.3400-19_3400-18dup
ENST00000524561.1:n.532-19_532-18dup
ENST00000527905.5:c.*276-19_*276-18dup	ENSP00000431653.1:n.*276-19_*276-18dup
NM_000352.4:c.3400-19_3400-18dup	NP_000343.2:n.3400-19_3400-18dup
NM_001287174.1:c.3403-19_3403-18dup	NP_001274103.1:n.3403-19_3403-18dup
XM_011520331.1:c.3400-19_3400-18dup	XP_011518633.1:n.3400-19_3400-18dup
XM_011520332.1:c.3403-19_3403-18dup	XP_011518634.1:n.3403-19_3403-18dup
XM_011520333.1:c.1900-19_1900-18dup	XP_011518635.1:n.1900-19_1900-18dup
XR_930890.1:n.3466-19_3466-18dup
XR_930891.1:n.3467-19_3467-18dup
XR_930892.1:n.3366-19_3366-18dup
XR_930893.1:n.3363-19_3363-18dup
NM_001351295.1:c.3466-19_3466-18dup	NP_001338224.1:n.3466-19_3466-18dup
NM_001351296.1:c.3400-19_3400-18dup	NP_001338225.1:n.3400-19_3400-18dup
NM_001351297.1:c.3397-19_3397-18dup	NP_001338226.1:n.3397-19_3397-18dup
NR_147094.1:n.3549-19_3549-18dup
XM_017018197.2:c.3469-19_3469-18dup	XP_016873686.1:n.3469-19_3469-18dup
XM_017018199.1:c.3466-19_3466-18dup	XP_016873688.1:n.3466-19_3466-18dup
XM_017018201.2:c.3469-19_3469-18dup	XP_016873690.1:n.3469-19_3469-18dup
XM_017018202.1:c.1966-19_1966-18dup	XP_016873691.1:n.1966-19_1966-18dup
XM_017018204.1:c.1357-19_1357-18dup	XP_016873693.1:n.1357-19_1357-18dup
XM_024448668.1:c.1768-19_1768-18dup	XP_024304436.1:n.1768-19_1768-18dup
XR_001747945.2:n.3541-19_3541-18dup
XR_001747946.2:n.3472-19_3472-18dup
XR_002957189.1:n.3621-19_3621-18dup
NM_000352.6:c.3400-19_3400-18dup MANE Select	NP_000343.2:n.3400-19_3400-18dup
NM_001287174.2:c.3403-19_3403-18dup	NP_001274103.1:n.3403-19_3403-18dup
NM_001351295.2:c.3466-19_3466-18dup	NP_001338224.1:n.3466-19_3466-18dup
NM_001351296.2:c.3400-19_3400-18dup	NP_001338225.1:n.3400-19_3400-18dup
NM_001351297.2:c.3397-19_3397-18dup	NP_001338226.1:n.3397-19_3397-18dup
NR_147094.2:n.3549-19_3549-18dup
NM_001287174.3:c.3403-19_3403-18dup	NP_001274103.1:n.3403-19_3403-18dup