Canonical Allele Identifier: CA2612661239

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404794-C-CAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404795_17404796insAAAA , CM000673.2:g.17404795_17404796insAAAA	GRCh38
NC_000011.9:g.17426342_17426343insAAAA , CM000673.1:g.17426342_17426343insAAAA	GRCh37
NC_000011.8:g.17382918_17382919insAAAA	NCBI36
NG_008867.1:g.77108_77109insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2969-126_2969-125insTTTT
ENST00000529967.6:n.1739-126_1739-125insTTTT
ENST00000532220.2:n.1132-126_1132-125insTTTT
ENST00000642611.2:n.3469-126_3469-125insTTTT
ENST00000645004.2:n.899-126_899-125insTTTT
ENST00000682051.1:n.3416-126_3416-125insTTTT
ENST00000682110.1:n.3469-126_3469-125insTTTT
ENST00000682140.1:c.3397-126_3397-125insTTTT	ENSP00000507829.1:n.3397-126_3397-125insTTTT
ENST00000682185.1:n.4705-126_4705-125insTTTT
ENST00000682204.1:c.*1538-126_*1538-125insTTTT	ENSP00000507094.1:n.*1538-126_*1538-125insTTTT
ENST00000682215.1:n.3466-126_3466-125insTTTT
ENST00000682288.1:c.*1831-126_*1831-125insTTTT	ENSP00000507506.1:n.*1831-126_*1831-125insTTTT
ENST00000682442.1:n.3689-126_3689-125insTTTT
ENST00000682528.1:n.3546-126_3546-125insTTTT
ENST00000682673.1:n.3413-126_3413-125insTTTT
ENST00000682805.1:n.3466-126_3466-125insTTTT
ENST00000682965.1:c.3396+699_3396+700insTTTT	ENSP00000508229.1:n.3396+699_3396+700insTTTT
ENST00000683093.1:n.3568-126_3568-125insTTTT
ENST00000683136.1:c.3397-126_3397-125insTTTT	ENSP00000507768.1:n.3397-126_3397-125insTTTT
ENST00000683153.1:n.3625-126_3625-125insTTTT
ENST00000683365.1:n.3571-126_3571-125insTTTT
ENST00000683377.1:n.3469-126_3469-125insTTTT
ENST00000683456.1:c.*537-126_*537-125insTTTT	ENSP00000508318.1:n.*537-126_*537-125insTTTT
ENST00000683522.1:n.3469-126_3469-125insTTTT
ENST00000683562.1:c.*1569-126_*1569-125insTTTT	ENSP00000508265.1:n.*1569-126_*1569-125insTTTT
ENST00000683693.1:n.3546-126_3546-125insTTTT
ENST00000683725.1:c.3400-126_3400-125insTTTT	ENSP00000507496.1:n.3400-126_3400-125insTTTT
ENST00000684010.1:n.3464-126_3464-125insTTTT
ENST00000684157.1:n.3469-126_3469-125insTTTT
ENST00000684253.1:n.3372-126_3372-125insTTTT
ENST00000684288.1:c.*1572-126_*1572-125insTTTT	ENSP00000507143.1:n.*1572-126_*1572-125insTTTT
ENST00000684313.1:n.2901-126_2901-125insTTTT
ENST00000684332.1:n.3542-126_3542-125insTTTT
ENST00000684371.1:n.3575-126_3575-125insTTTT
ENST00000684404.1:n.3512-126_3512-125insTTTT
ENST00000684442.1:n.3469-126_3469-125insTTTT
ENST00000684555.1:c.*1612-126_*1612-125insTTTT	ENSP00000507705.1:n.*1612-126_*1612-125insTTTT
ENST00000684571.1:c.3241-126_3241-125insTTTT	ENSP00000506935.1:n.3241-126_3241-125insTTTT
ENST00000684593.1:c.*3105-126_*3105-125insTTTT	ENSP00000507005.1:n.*3105-126_*3105-125insTTTT
ENST00000684711.1:c.*1796-126_*1796-125insTTTT	ENSP00000506841.1:n.*1796-126_*1796-125insTTTT
ENST00000302539.9:c.3403-126_3403-125insTTTT	ENSP00000303960.4:n.3403-126_3403-125insTTTT
ENST00000389817.8:c.3400-126_3400-125insTTTT MANE Select	ENSP00000374467.4:n.3400-126_3400-125insTTTT
ENST00000642271.1:c.3397-126_3397-125insTTTT	ENSP00000493749.1:n.3397-126_3397-125insTTTT
ENST00000642579.1:c.1484-126_1484-125insTTTT
ENST00000642611.1:n.3354-126_3354-125insTTTT
ENST00000642902.1:c.3182-126_3182-125insTTTT
ENST00000643260.1:c.3400-126_3400-125insTTTT	ENSP00000494450.1:n.3400-126_3400-125insTTTT
ENST00000643562.1:c.*1376-126_*1376-125insTTTT	ENSP00000496124.1:n.*1376-126_*1376-125insTTTT
ENST00000643925.1:c.1524-126_1524-125insTTTT
ENST00000644447.1:c.1756-126_1756-125insTTTT	ENSP00000496282.1:n.1756-126_1756-125insTTTT
ENST00000644484.1:c.*1655-126_*1655-125insTTTT	ENSP00000493558.1:n.*1655-126_*1655-125insTTTT
ENST00000644675.1:c.*1572-126_*1572-125insTTTT	ENSP00000494567.1:n.*1572-126_*1572-125insTTTT
ENST00000644757.1:c.*1685-126_*1685-125insTTTT	ENSP00000495085.1:n.*1685-126_*1685-125insTTTT
ENST00000644772.1:c.3466-126_3466-125insTTTT	ENSP00000494321.1:n.3466-126_3466-125insTTTT
ENST00000645004.1:n.539-126_539-125insTTTT
ENST00000645076.1:c.2599-126_2599-125insTTTT
ENST00000645417.1:c.566-126_566-125insTTTT
ENST00000645744.1:c.*1664-126_*1664-125insTTTT	ENSP00000494564.1:n.*1664-126_*1664-125insTTTT
ENST00000645760.1:c.3675-126_3675-125insTTTT
ENST00000645884.1:c.*537-126_*537-125insTTTT	ENSP00000495516.1:n.*537-126_*537-125insTTTT
ENST00000646003.1:c.*1356-126_*1356-125insTTTT	ENSP00000495259.1:n.*1356-126_*1356-125insTTTT
ENST00000646207.1:c.*1867-126_*1867-125insTTTT	ENSP00000495025.1:n.*1867-126_*1867-125insTTTT
ENST00000646276.1:c.*1673-126_*1673-125insTTTT	ENSP00000496070.1:n.*1673-126_*1673-125insTTTT
ENST00000646592.1:c.2706-126_2706-125insTTTT
ENST00000646902.1:c.3397-126_3397-125insTTTT	ENSP00000494101.1:n.3397-126_3397-125insTTTT
ENST00000646993.1:c.*1796-126_*1796-125insTTTT	ENSP00000493720.1:n.*1796-126_*1796-125insTTTT
ENST00000647013.1:c.3406-126_3406-125insTTTT	ENSP00000496741.1:n.3406-126_3406-125insTTTT
ENST00000647015.1:c.3151-126_3151-125insTTTT	ENSP00000495389.1:n.3151-126_3151-125insTTTT
ENST00000647086.1:c.*3130-126_*3130-125insTTTT	ENSP00000493677.1:n.*3130-126_*3130-125insTTTT
ENST00000647158.1:c.*1541-126_*1541-125insTTTT	ENSP00000495744.1:n.*1541-126_*1541-125insTTTT
ENST00000302539.8:c.3403-126_3403-125insTTTT	ENSP00000303960.4:n.3403-126_3403-125insTTTT
ENST00000389817.7:c.3400-126_3400-125insTTTT	ENSP00000374467.3:n.3400-126_3400-125insTTTT
ENST00000524561.1:n.532-126_532-125insTTTT
ENST00000527905.5:c.*276-126_*276-125insTTTT	ENSP00000431653.1:n.*276-126_*276-125insTTTT
NM_000352.4:c.3400-126_3400-125insTTTT	NP_000343.2:n.3400-126_3400-125insTTTT
NM_001287174.1:c.3403-126_3403-125insTTTT	NP_001274103.1:n.3403-126_3403-125insTTTT
XM_011520331.1:c.3400-126_3400-125insTTTT	XP_011518633.1:n.3400-126_3400-125insTTTT
XM_011520332.1:c.3403-126_3403-125insTTTT	XP_011518634.1:n.3403-126_3403-125insTTTT
XM_011520333.1:c.1900-126_1900-125insTTTT	XP_011518635.1:n.1900-126_1900-125insTTTT
XR_930890.1:n.3466-126_3466-125insTTTT
XR_930891.1:n.3467-126_3467-125insTTTT
XR_930892.1:n.3366-126_3366-125insTTTT
XR_930893.1:n.3363-126_3363-125insTTTT
NM_001351295.1:c.3466-126_3466-125insTTTT	NP_001338224.1:n.3466-126_3466-125insTTTT
NM_001351296.1:c.3400-126_3400-125insTTTT	NP_001338225.1:n.3400-126_3400-125insTTTT
NM_001351297.1:c.3397-126_3397-125insTTTT	NP_001338226.1:n.3397-126_3397-125insTTTT
NR_147094.1:n.3549-126_3549-125insTTTT
XM_017018197.2:c.3469-126_3469-125insTTTT	XP_016873686.1:n.3469-126_3469-125insTTTT
XM_017018199.1:c.3466-126_3466-125insTTTT	XP_016873688.1:n.3466-126_3466-125insTTTT
XM_017018201.2:c.3469-126_3469-125insTTTT	XP_016873690.1:n.3469-126_3469-125insTTTT
XM_017018202.1:c.1966-126_1966-125insTTTT	XP_016873691.1:n.1966-126_1966-125insTTTT
XM_017018204.1:c.1357-126_1357-125insTTTT	XP_016873693.1:n.1357-126_1357-125insTTTT
XM_024448668.1:c.1768-126_1768-125insTTTT	XP_024304436.1:n.1768-126_1768-125insTTTT
XR_001747945.2:n.3541-126_3541-125insTTTT
XR_001747946.2:n.3472-126_3472-125insTTTT
XR_002957189.1:n.3621-126_3621-125insTTTT
NM_000352.6:c.3400-126_3400-125insTTTT MANE Select	NP_000343.2:n.3400-126_3400-125insTTTT
NM_001287174.2:c.3403-126_3403-125insTTTT	NP_001274103.1:n.3403-126_3403-125insTTTT
NM_001351295.2:c.3466-126_3466-125insTTTT	NP_001338224.1:n.3466-126_3466-125insTTTT
NM_001351296.2:c.3400-126_3400-125insTTTT	NP_001338225.1:n.3400-126_3400-125insTTTT
NM_001351297.2:c.3397-126_3397-125insTTTT	NP_001338226.1:n.3397-126_3397-125insTTTT
NR_147094.2:n.3549-126_3549-125insTTTT
NM_001287174.3:c.3403-126_3403-125insTTTT	NP_001274103.1:n.3403-126_3403-125insTTTT