Canonical Allele Identifier: CA1955127596

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404596_17404599delinsTAGG , CM000673.2:g.17404596_17404599delinsTAGG	GRCh38
NC_000011.9:g.17426143_17426146delinsTAGG , CM000673.1:g.17426143_17426146delinsTAGG	GRCh37
NC_000011.8:g.17382719_17382722delinsTAGG	NCBI36
NG_008867.1:g.77304_77307delinsCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3039_3042delinsCCTA
ENST00000528374.2:c.49_52delinsCCTA
ENST00000529967.6:n.1809_1812delinsCCTA
ENST00000532220.2:n.1202_1205delinsCCTA
ENST00000642611.2:n.3539_3542delinsCCTA
ENST00000645004.2:n.969_972delinsCCTA
ENST00000682051.1:n.3486_3489delinsCCTA
ENST00000682110.1:n.3539_3542delinsCCTA
ENST00000682140.1:c.3467_3470delinsCCTA	ENSP00000507829.1:p.Ser1156=
ENST00000682185.1:n.4775_4778delinsCCTA
ENST00000682204.1:c.*1608_*1611delinsCCTA	ENSP00000507094.1:n.*1608_*1611delinsCCTA
ENST00000682215.1:n.3536_3539delinsCCTA
ENST00000682288.1:c.*1901_*1904delinsCCTA	ENSP00000507506.1:n.*1901_*1904delinsCCTA
ENST00000682442.1:n.3759_3762delinsCCTA
ENST00000682528.1:n.3616_3619delinsCCTA
ENST00000682673.1:n.3483_3486delinsCCTA
ENST00000682805.1:n.3536_3539delinsCCTA
ENST00000682965.1:c.3396+895_3396+898delinsCCTA	ENSP00000508229.1:n.3396+895_3396+898delinsCCTA
ENST00000683093.1:n.3638_3641delinsCCTA
ENST00000683136.1:c.3467_3470delinsCCTA	ENSP00000507768.1:p.Ser1156=
ENST00000683153.1:n.3695_3698delinsCCTA
ENST00000683365.1:n.3641_3644delinsCCTA
ENST00000683377.1:n.3539_3542delinsCCTA
ENST00000683456.1:c.*607_*610delinsCCTA	ENSP00000508318.1:n.*607_*610delinsCCTA
ENST00000683522.1:n.3539_3542delinsCCTA
ENST00000683562.1:c.*1639_*1642delinsCCTA	ENSP00000508265.1:n.*1639_*1642delinsCCTA
ENST00000683693.1:n.3616_3619delinsCCTA
ENST00000683725.1:c.3470_3473delinsCCTA	ENSP00000507496.1:p.Ser1157=
ENST00000684010.1:n.3534_3537delinsCCTA
ENST00000684157.1:n.3539_3542delinsCCTA
ENST00000684253.1:n.3442_3445delinsCCTA
ENST00000684288.1:c.*1642_*1645delinsCCTA	ENSP00000507143.1:n.*1642_*1645delinsCCTA
ENST00000684313.1:n.2971_2974delinsCCTA
ENST00000684332.1:n.3612_3615delinsCCTA
ENST00000684371.1:n.3645_3648delinsCCTA
ENST00000684404.1:n.3582_3585delinsCCTA
ENST00000684442.1:n.3539_3542delinsCCTA
ENST00000684555.1:c.*1682_*1685delinsCCTA	ENSP00000507705.1:n.*1682_*1685delinsCCTA
ENST00000684571.1:c.3311_3314delinsCCTA	ENSP00000506935.1:p.Ser1104=
ENST00000684593.1:c.*3175_*3178delinsCCTA	ENSP00000507005.1:n.*3175_*3178delinsCCTA
ENST00000684711.1:c.*1866_*1869delinsCCTA	ENSP00000506841.1:n.*1866_*1869delinsCCTA
ENST00000302539.9:c.3473_3476delinsCCTA	ENSP00000303960.4:p.Ser1158=
ENST00000389817.8:c.3470_3473delinsCCTA MANE Select	ENSP00000374467.4:p.Ser1157=
ENST00000642271.1:c.3467_3470delinsCCTA	ENSP00000493749.1:p.Ser1156=
ENST00000642579.1:c.1554_1557delinsCCTA
ENST00000642611.1:n.3424_3427delinsCCTA
ENST00000642902.1:c.3252_3255delinsCCTA
ENST00000643260.1:c.3470_3473delinsCCTA	ENSP00000494450.1:p.Ser1157=
ENST00000643562.1:c.*1446_*1449delinsCCTA	ENSP00000496124.1:n.*1446_*1449delinsCCTA
ENST00000643925.1:c.1594_1597delinsCCTA
ENST00000644447.1:c.1826_1829delinsCCTA	ENSP00000496282.1:p.Ser609=
ENST00000644484.1:c.*1725_*1728delinsCCTA	ENSP00000493558.1:n.*1725_*1728delinsCCTA
ENST00000644675.1:c.*1642_*1645delinsCCTA	ENSP00000494567.1:n.*1642_*1645delinsCCTA
ENST00000644757.1:c.*1755_*1758delinsCCTA	ENSP00000495085.1:n.*1755_*1758delinsCCTA
ENST00000644772.1:c.3536_3539delinsCCTA	ENSP00000494321.1:p.Ser1179=
ENST00000645004.1:n.609_612delinsCCTA
ENST00000645076.1:c.2669_2672delinsCCTA
ENST00000645417.1:c.636_639delinsCCTA
ENST00000645744.1:c.*1734_*1737delinsCCTA	ENSP00000494564.1:n.*1734_*1737delinsCCTA
ENST00000645760.1:c.3745_3748delinsCCTA
ENST00000645884.1:c.*607_*610delinsCCTA	ENSP00000495516.1:n.*607_*610delinsCCTA
ENST00000646003.1:c.*1426_*1429delinsCCTA	ENSP00000495259.1:n.*1426_*1429delinsCCTA
ENST00000646207.1:c.*1937_*1940delinsCCTA	ENSP00000495025.1:n.*1937_*1940delinsCCTA
ENST00000646276.1:c.*1743_*1746delinsCCTA	ENSP00000496070.1:n.*1743_*1746delinsCCTA
ENST00000646592.1:c.2776_2779delinsCCTA
ENST00000646902.1:c.3467_3470delinsCCTA	ENSP00000494101.1:p.Ser1156=
ENST00000646993.1:c.*1866_*1869delinsCCTA	ENSP00000493720.1:n.*1866_*1869delinsCCTA
ENST00000647013.1:c.3476_3479delinsCCTA	ENSP00000496741.1:n.3476_3479delinsCCTA
ENST00000647015.1:c.3221_3224delinsCCTA	ENSP00000495389.1:p.Ser1074=
ENST00000647086.1:c.*3200_*3203delinsCCTA	ENSP00000493677.1:n.*3200_*3203delinsCCTA
ENST00000647158.1:c.*1611_*1614delinsCCTA	ENSP00000495744.1:n.*1611_*1614delinsCCTA
ENST00000302539.8:c.3473_3476delinsCCTA	ENSP00000303960.4:p.Ser1158=
ENST00000389817.7:c.3470_3473delinsCCTA	ENSP00000374467.3:p.Ser1157=
ENST00000524561.1:n.602_605delinsCCTA
ENST00000527905.5:c.*346_*349delinsCCTA	ENSP00000431653.1:n.*346_*349delinsCCTA
NM_000352.4:c.3470_3473delinsCCTA	NP_000343.2:p.Ser1157=
NM_001287174.1:c.3473_3476delinsCCTA	NP_001274103.1:p.Ser1158=
XM_011520331.1:c.3470_3473delinsCCTA	XP_011518633.1:p.Ser1157=
XM_011520332.1:c.3473_3476delinsCCTA	XP_011518634.1:p.Ser1158=
XM_011520333.1:c.1970_1973delinsCCTA	XP_011518635.1:p.Ser657=
XR_930890.1:n.3536_3539delinsCCTA
XR_930892.1:n.3436_3439delinsCCTA
XR_930893.1:n.3433_3436delinsCCTA
NM_001351295.1:c.3536_3539delinsCCTA	NP_001338224.1:p.Ser1179=
NM_001351296.1:c.3470_3473delinsCCTA	NP_001338225.1:p.Ser1157=
NM_001351297.1:c.3467_3470delinsCCTA	NP_001338226.1:p.Ser1156=
NR_147094.1:n.3619_3622delinsCCTA
XM_017018197.2:c.3539_3542delinsCCTA	XP_016873686.1:p.Ser1180=
XM_017018199.1:c.3536_3539delinsCCTA	XP_016873688.1:p.Ser1179=
XM_017018201.2:c.3539_3542delinsCCTA	XP_016873690.1:p.Ser1180=
XM_017018202.1:c.2036_2039delinsCCTA	XP_016873691.1:p.Ser679=
XM_017018204.1:c.1427_1430delinsCCTA	XP_016873693.1:p.Ser476=
XM_024448668.1:c.1838_1841delinsCCTA	XP_024304436.1:p.Ser613=
XR_001747945.2:n.3611_3614delinsCCTA
XR_001747946.2:n.3542_3545delinsCCTA
XR_002957189.1:n.3691_3694delinsCCTA
NM_000352.6:c.3470_3473delinsCCTA MANE Select	NP_000343.2:p.Ser1157=
NM_001287174.2:c.3473_3476delinsCCTA	NP_001274103.1:p.Ser1158=
NM_001351295.2:c.3536_3539delinsCCTA	NP_001338224.1:p.Ser1179=
NM_001351296.2:c.3470_3473delinsCCTA	NP_001338225.1:p.Ser1157=
NM_001351297.2:c.3467_3470delinsCCTA	NP_001338226.1:p.Ser1156=
NR_147094.2:n.3619_3622delinsCCTA
NM_001287174.3:c.3473_3476delinsCCTA	NP_001274103.1:p.Ser1158=