Canonical Allele Identifier: CA2695201091

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2676820
• ClinVar RCV Id: RCV003461952

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397045_17397046insC , CM000673.2:g.17397045_17397046insC	GRCh38
NC_000011.9:g.17418592_17418593insC , CM000673.1:g.17418592_17418593insC	GRCh37
NC_000011.8:g.17375168_17375169insC	NCBI36
NG_008867.1:g.84857_84858insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3590_3591insG
ENST00000528374.2:c.580_581insG
ENST00000529967.6:n.2328_2329insG
ENST00000532220.2:n.2237_2238insG
ENST00000642611.2:n.4204_4205insG
ENST00000644057.2:n.432_433insG
ENST00000645004.2:n.1488_1489insG
ENST00000682051.1:n.4151_4152insG
ENST00000682110.1:n.4204_4205insG
ENST00000682140.1:c.3985+147_3985+148insG	ENSP00000507829.1:n.3985+147_3985+148insG
ENST00000682185.1:n.5294_5295insG
ENST00000682204.1:c.*2127_*2128insG	ENSP00000507094.1:n.*2127_*2128insG
ENST00000682215.1:n.4571_4572insG
ENST00000682288.1:c.*2420_*2421insG	ENSP00000507506.1:n.*2420_*2421insG
ENST00000682442.1:n.4424_4425insG
ENST00000682528.1:n.4281_4282insG
ENST00000682673.1:n.4148_4149insG
ENST00000682805.1:n.4571_4572insG
ENST00000682965.1:c.*411_*412insG	ENSP00000508229.1:n.*411_*412insG
ENST00000683093.1:n.4303_4304insG
ENST00000683136.1:c.3872_3873insG	ENSP00000507768.1:p.Pro1292ThrfsTer?
ENST00000683153.1:n.4246_4247insG
ENST00000683365.1:n.4306_4307insG
ENST00000683377.1:n.4204_4205insG
ENST00000683456.1:c.*1126_*1127insG	ENSP00000508318.1:n.*1126_*1127insG
ENST00000683522.1:n.4204_4205insG
ENST00000683562.1:c.*2158_*2159insG	ENSP00000508265.1:n.*2158_*2159insG
ENST00000683693.1:n.4651_4652insG
ENST00000683725.1:c.3989_3990insG	ENSP00000507496.1:p.Pro1331ThrfsTer?
ENST00000684010.1:n.4199_4200insG
ENST00000684157.1:n.4204_4205insG
ENST00000684253.1:n.4107_4108insG
ENST00000684288.1:c.*2161_*2162insG	ENSP00000507143.1:n.*2161_*2162insG
ENST00000684313.1:n.3636_3637insG
ENST00000684332.1:n.4277_4278insG
ENST00000684371.1:n.4310_4311insG
ENST00000684404.1:n.4247_4248insG
ENST00000684442.1:n.4428_4429insG
ENST00000684555.1:c.*2201_*2202insG	ENSP00000507705.1:n.*2201_*2202insG
ENST00000684571.1:c.3830_3831insG	ENSP00000506935.1:p.Pro1278ThrfsTer?
ENST00000684593.1:c.*3694_*3695insG	ENSP00000507005.1:n.*3694_*3695insG
ENST00000684711.1:c.*2385_*2386insG	ENSP00000506841.1:n.*2385_*2386insG
ENST00000302539.9:c.3992_3993insG	ENSP00000303960.4:p.Pro1332ThrfsTer?
ENST00000389817.8:c.3989_3990insG MANE Select	ENSP00000374467.4:p.Pro1331ThrfsTer?
ENST00000642271.1:c.3986_3987insG	ENSP00000493749.1:p.Pro1330ThrfsTer?
ENST00000642579.1:c.2073-30_2073-29insG
ENST00000642611.1:n.4089_4090insG
ENST00000642902.1:c.3771_3772insG
ENST00000643260.1:c.3989_3990insG	ENSP00000494450.1:p.Pro1331ThrfsTer?
ENST00000643562.1:c.*2111_*2112insG	ENSP00000496124.1:n.*2111_*2112insG
ENST00000643925.1:c.2629_2630insG
ENST00000644057.1:n.66_67insG
ENST00000644484.1:c.*2390_*2391insG	ENSP00000493558.1:n.*2390_*2391insG
ENST00000644675.1:c.*2161_*2162insG	ENSP00000494567.1:n.*2161_*2162insG
ENST00000644757.1:c.*2420_*2421insG	ENSP00000495085.1:n.*2420_*2421insG
ENST00000644772.1:c.4055_4056insG	ENSP00000494321.1:p.Pro1353ThrfsTer?
ENST00000645004.1:n.1644_1645insG
ENST00000645076.1:c.3188_3189insG
ENST00000645417.1:c.1177_1178insG
ENST00000645744.1:c.*2769_*2770insG	ENSP00000494564.1:n.*2769_*2770insG
ENST00000645760.1:c.4410_4411insG
ENST00000645884.1:c.*1272_*1273insG	ENSP00000495516.1:n.*1272_*1273insG
ENST00000646003.1:c.*2091_*2092insG	ENSP00000495259.1:n.*2091_*2092insG
ENST00000646207.1:c.*2826_*2827insG	ENSP00000495025.1:n.*2826_*2827insG
ENST00000646276.1:c.*2408_*2409insG	ENSP00000496070.1:n.*2408_*2409insG
ENST00000646592.1:c.3295_3296insG
ENST00000646902.1:c.3986-30_3986-29insG	ENSP00000494101.1:n.3986-30_3986-29insG
ENST00000646993.1:c.*2531_*2532insG	ENSP00000493720.1:n.*2531_*2532insG
ENST00000647013.1:c.3995_3996insG	ENSP00000496741.1:n.3995_3996insG
ENST00000647015.1:c.3740_3741insG	ENSP00000495389.1:p.Pro1248ThrfsTer?
ENST00000647086.1:c.*3605-30_*3605-29insG	ENSP00000493677.1:n.*3605-30_*3605-29insG
ENST00000647158.1:c.*2276_*2277insG	ENSP00000495744.1:n.*2276_*2277insG
ENST00000302539.8:c.3992_3993insG	ENSP00000303960.4:p.Pro1332ThrfsTer?
ENST00000389817.7:c.3989_3990insG	ENSP00000374467.3:p.Pro1331ThrfsTer?
ENST00000527905.5:c.*1011_*1012insG	ENSP00000431653.1:n.*1011_*1012insG
ENST00000528374.1:c.471_472insG
ENST00000531137.1:n.554_555insG
ENST00000531891.1:c.357-30_357-29insG
ENST00000532220.1:n.463_464insG
NM_000352.4:c.3989_3990insG	NP_000343.2:p.Pro1331ThrfsTer?
NM_001287174.1:c.3992_3993insG	NP_001274103.1:p.Pro1332ThrfsTer?
XM_011520331.1:c.3989_3990insG	XP_011518633.1:p.Pro1331ThrfsTer?
XM_011520332.1:c.3992_3993insG	XP_011518634.1:p.Pro1332ThrfsTer?
XM_011520333.1:c.2489_2490insG	XP_011518635.1:p.Pro831ThrfsTer?
XR_930890.1:n.4055_4056insG
NM_001351295.1:c.4055_4056insG	NP_001338224.1:p.Pro1353ThrfsTer?
NM_001351296.1:c.3989_3990insG	NP_001338225.1:p.Pro1331ThrfsTer?
NM_001351297.1:c.3986_3987insG	NP_001338226.1:p.Pro1330ThrfsTer?
NR_147094.1:n.4284_4285insG
XM_017018197.2:c.4058_4059insG	XP_016873686.1:p.Pro1354ThrfsTer?
XM_017018199.1:c.4055_4056insG	XP_016873688.1:p.Pro1353ThrfsTer?
XM_017018201.2:c.4058_4059insG	XP_016873690.1:p.Pro1354ThrfsTer?
XM_017018202.1:c.2555_2556insG	XP_016873691.1:p.Pro853ThrfsTer?
XM_017018204.1:c.1946_1947insG	XP_016873693.1:p.Pro650ThrfsTer?
XM_024448668.1:c.2357_2358insG	XP_024304436.1:p.Pro787ThrfsTer?
XR_001747945.2:n.4130_4131insG
XR_001747946.2:n.4061_4062insG
XR_002957189.1:n.4726_4727insG
NM_000352.6:c.3989_3990insG MANE Select	NP_000343.2:p.Pro1331ThrfsTer?
NM_001287174.2:c.3992_3993insG	NP_001274103.1:p.Pro1332ThrfsTer?
NM_001351295.2:c.4055_4056insG	NP_001338224.1:p.Pro1353ThrfsTer?
NM_001351296.2:c.3989_3990insG	NP_001338225.1:p.Pro1331ThrfsTer?
NM_001351297.2:c.3986_3987insG	NP_001338226.1:p.Pro1330ThrfsTer?
NR_147094.2:n.4284_4285insG
NM_001287174.3:c.3992_3993insG	NP_001274103.1:p.Pro1332ThrfsTer?