Canonical Allele Identifier: CA2612639590

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395933-GGAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395936_17395939del , CM000673.2:g.17395936_17395939del	GRCh38
NC_000011.9:g.17417483_17417486del , CM000673.1:g.17417483_17417486del	GRCh37
NC_000011.8:g.17374059_17374062del	NCBI36
NG_008867.1:g.85966_85969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3721-7_3721-4del
ENST00000528374.2:c.711-7_711-4del
ENST00000529967.6:n.2459-7_2459-4del
ENST00000532220.2:n.3346_3349del
ENST00000642611.2:n.5313_5316del
ENST00000644057.2:n.563-7_563-4del
ENST00000645004.2:n.1619-7_1619-4del
ENST00000682051.1:n.4282-7_4282-4del
ENST00000682110.1:n.4335-7_4335-4del
ENST00000682140.1:c.3986-7_3986-4del	ENSP00000507829.1:n.3986-7_3986-4del
ENST00000682185.1:n.5425-7_5425-4del
ENST00000682204.1:c.*2258-7_*2258-4del	ENSP00000507094.1:n.*2258-7_*2258-4del
ENST00000682215.1:n.4702-7_4702-4del
ENST00000682288.1:c.*2551-7_*2551-4del	ENSP00000507506.1:n.*2551-7_*2551-4del
ENST00000682442.1:n.4555-7_4555-4del
ENST00000682528.1:n.4412-7_4412-4del
ENST00000682673.1:n.4279-7_4279-4del
ENST00000682805.1:n.4740-7_4740-4del
ENST00000682965.1:c.*542-7_*542-4del	ENSP00000508229.1:n.*542-7_*542-4del
ENST00000683093.1:n.5412_5415del
ENST00000683136.1:c.4003-7_4003-4del	ENSP00000507768.1:n.4003-7_4003-4del
ENST00000683153.1:n.4377-7_4377-4del
ENST00000683365.1:n.4437-7_4437-4del
ENST00000683377.1:n.4335-7_4335-4del
ENST00000683456.1:c.*1257-7_*1257-4del	ENSP00000508318.1:n.*1257-7_*1257-4del
ENST00000683522.1:n.4335-7_4335-4del
ENST00000683562.1:c.*2289-7_*2289-4del	ENSP00000508265.1:n.*2289-7_*2289-4del
ENST00000683693.1:n.5760_5763del
ENST00000683725.1:c.4120-7_4120-4del	ENSP00000507496.1:n.4120-7_4120-4del
ENST00000684010.1:n.4330-7_4330-4del
ENST00000684157.1:n.5313_5316del
ENST00000684253.1:n.4238-7_4238-4del
ENST00000684288.1:c.*2292-7_*2292-4del	ENSP00000507143.1:n.*2292-7_*2292-4del
ENST00000684313.1:n.3767-7_3767-4del
ENST00000684332.1:n.4408-7_4408-4del
ENST00000684371.1:n.4441-7_4441-4del
ENST00000684404.1:n.5356_5359del
ENST00000684442.1:n.4559-7_4559-4del
ENST00000684555.1:c.*2332-7_*2332-4del	ENSP00000507705.1:n.*2332-7_*2332-4del
ENST00000684571.1:c.3961-7_3961-4del	ENSP00000506935.1:n.3961-7_3961-4del
ENST00000684593.1:c.*3825-7_*3825-4del	ENSP00000507005.1:n.*3825-7_*3825-4del
ENST00000684711.1:c.*2516-7_*2516-4del	ENSP00000506841.1:n.*2516-7_*2516-4del
ENST00000302539.9:c.4123-7_4123-4del	ENSP00000303960.4:n.4123-7_4123-4del
ENST00000389817.8:c.4120-7_4120-4del MANE Select	ENSP00000374467.4:n.4120-7_4120-4del
ENST00000642271.1:c.4117-7_4117-4del	ENSP00000493749.1:n.4117-7_4117-4del
ENST00000642579.1:c.2174-7_2174-4del
ENST00000642611.1:n.5198_5201del
ENST00000642902.1:c.3902-7_3902-4del
ENST00000643260.1:c.4120-7_4120-4del	ENSP00000494450.1:n.4120-7_4120-4del
ENST00000643562.1:c.*2242-7_*2242-4del	ENSP00000496124.1:n.*2242-7_*2242-4del
ENST00000643925.1:c.2760-7_2760-4del
ENST00000644057.1:n.197-7_197-4del
ENST00000644484.1:c.*3499_*3502del	ENSP00000493558.1:n.*3499_*3502del
ENST00000644675.1:c.*2292-7_*2292-4del	ENSP00000494567.1:n.*2292-7_*2292-4del
ENST00000644757.1:c.*3202+327_*3202+330del	ENSP00000495085.1:n.*3202+327_*3202+330del
ENST00000644772.1:c.4186-7_4186-4del	ENSP00000494321.1:n.4186-7_4186-4del
ENST00000645004.1:n.1813-7_1813-4del
ENST00000645076.1:c.3319-7_3319-4del
ENST00000645417.1:c.1308-7_1308-4del
ENST00000645744.1:c.*3878_*3881del	ENSP00000494564.1:n.*3878_*3881del
ENST00000645760.1:c.4541-7_4541-4del
ENST00000645884.1:c.*1403-7_*1403-4del	ENSP00000495516.1:n.*1403-7_*1403-4del
ENST00000646003.1:c.*2222-7_*2222-4del	ENSP00000495259.1:n.*2222-7_*2222-4del
ENST00000646207.1:c.*2957-7_*2957-4del	ENSP00000495025.1:n.*2957-7_*2957-4del
ENST00000646276.1:c.*3517_*3520del	ENSP00000496070.1:n.*3517_*3520del
ENST00000646592.1:c.3426-7_3426-4del
ENST00000646902.1:c.4087-7_4087-4del	ENSP00000494101.1:n.4087-7_4087-4del
ENST00000646993.1:c.*2662-7_*2662-4del	ENSP00000493720.1:n.*2662-7_*2662-4del
ENST00000647013.1:c.4126-7_4126-4del	ENSP00000496741.1:n.4126-7_4126-4del
ENST00000647015.1:c.3871-7_3871-4del	ENSP00000495389.1:n.3871-7_3871-4del
ENST00000647086.1:c.*3706-7_*3706-4del	ENSP00000493677.1:n.*3706-7_*3706-4del
ENST00000647158.1:c.*2407-7_*2407-4del	ENSP00000495744.1:n.*2407-7_*2407-4del
ENST00000302539.8:c.4123-7_4123-4del	ENSP00000303960.4:n.4123-7_4123-4del
ENST00000389817.7:c.4120-7_4120-4del	ENSP00000374467.3:n.4120-7_4120-4del
ENST00000528374.1:c.602-7_602-4del
ENST00000532220.1:n.594-7_594-4del
NM_000352.4:c.4120-7_4120-4del	NP_000343.2:n.4120-7_4120-4del
NM_001287174.1:c.4123-7_4123-4del	NP_001274103.1:n.4123-7_4123-4del
XM_011520331.1:c.4120-7_4120-4del	XP_011518633.1:n.4120-7_4120-4del
XM_011520332.1:c.4123-7_4123-4del	XP_011518634.1:n.4123-7_4123-4del
XM_011520333.1:c.2620-7_2620-4del	XP_011518635.1:n.2620-7_2620-4del
XR_930890.1:n.4186-7_4186-4del
NM_001351295.1:c.4186-7_4186-4del	NP_001338224.1:n.4186-7_4186-4del
NM_001351296.1:c.4120-7_4120-4del	NP_001338225.1:n.4120-7_4120-4del
NM_001351297.1:c.4117-7_4117-4del	NP_001338226.1:n.4117-7_4117-4del
NR_147094.1:n.4415-7_4415-4del
XM_017018197.2:c.4189-7_4189-4del	XP_016873686.1:n.4189-7_4189-4del
XM_017018199.1:c.4186-7_4186-4del	XP_016873688.1:n.4186-7_4186-4del
XM_017018201.2:c.4189-7_4189-4del	XP_016873690.1:n.4189-7_4189-4del
XM_017018202.1:c.2686-7_2686-4del	XP_016873691.1:n.2686-7_2686-4del
XM_017018204.1:c.2077-7_2077-4del	XP_016873693.1:n.2077-7_2077-4del
XM_024448668.1:c.2488-7_2488-4del	XP_024304436.1:n.2488-7_2488-4del
XR_001747945.2:n.4261-7_4261-4del
XR_001747946.2:n.4192-7_4192-4del
XR_002957189.1:n.5835_5838del
NM_000352.6:c.4120-7_4120-4del MANE Select	NP_000343.2:n.4120-7_4120-4del
NM_001287174.2:c.4123-7_4123-4del	NP_001274103.1:n.4123-7_4123-4del
NM_001351295.2:c.4186-7_4186-4del	NP_001338224.1:n.4186-7_4186-4del
NM_001351296.2:c.4120-7_4120-4del	NP_001338225.1:n.4120-7_4120-4del
NM_001351297.2:c.4117-7_4117-4del	NP_001338226.1:n.4117-7_4117-4del
NR_147094.2:n.4415-7_4415-4del
NM_001287174.3:c.4123-7_4123-4del	NP_001274103.1:n.4123-7_4123-4del