Canonical Allele Identifier: CA935532182

Gene: ABCC8

Linked Data

• dbSNP Id: rs1954881433
• gnomAD v3: 11-17412844-GCTCTATCCACTTCTTTGCCTGCTTCTCAC-G
• gnomAD v4: 11-17412844-GCTCTATCCACTTCTTTGCCTGCTTCTCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412847_17412875del , CM000673.2:g.17412847_17412875del	GRCh38
NC_000011.9:g.17434394_17434422del , CM000673.1:g.17434394_17434422del	GRCh37
NC_000011.8:g.17390970_17390998del	NCBI36
NG_008867.1:g.69030_69058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2145-127_2145-99del
ENST00000529967.6:n.735-127_735-99del
ENST00000642611.2:n.2545-127_2545-99del
ENST00000682051.1:n.2492-127_2492-99del
ENST00000682110.1:n.2545-127_2545-99del
ENST00000682140.1:c.2473-127_2473-99del	ENSP00000507829.1:n.2473-127_2473-99del
ENST00000682185.1:n.3781-127_3781-99del
ENST00000682204.1:c.*614-127_*614-99del	ENSP00000507094.1:n.*614-127_*614-99del
ENST00000682215.1:n.2542-127_2542-99del
ENST00000682288.1:c.*907-127_*907-99del	ENSP00000507506.1:n.*907-127_*907-99del
ENST00000682442.1:n.2666-127_2666-99del
ENST00000682528.1:n.2542-127_2542-99del
ENST00000682673.1:n.2489-127_2489-99del
ENST00000682805.1:n.2542-127_2542-99del
ENST00000682965.1:c.2473-127_2473-99del	ENSP00000508229.1:n.2473-127_2473-99del
ENST00000683093.1:n.2644-127_2644-99del
ENST00000683136.1:c.2473-127_2473-99del	ENSP00000507768.1:n.2473-127_2473-99del
ENST00000683153.1:n.2701-127_2701-99del
ENST00000683365.1:n.2647-127_2647-99del
ENST00000683377.1:n.2545-127_2545-99del
ENST00000683456.1:c.2476-127_2476-99del	ENSP00000508318.1:n.2476-127_2476-99del
ENST00000683522.1:n.2545-127_2545-99del
ENST00000683562.1:c.*645-127_*645-99del	ENSP00000508265.1:n.*645-127_*645-99del
ENST00000683693.1:n.2542-127_2542-99del
ENST00000683725.1:c.2476-127_2476-99del	ENSP00000507496.1:n.2476-127_2476-99del
ENST00000684010.1:n.2460-127_2460-99del
ENST00000684157.1:n.2545-127_2545-99del
ENST00000684253.1:n.2448-127_2448-99del
ENST00000684288.1:c.*648-127_*648-99del	ENSP00000507143.1:n.*648-127_*648-99del
ENST00000684313.1:n.1977-127_1977-99del
ENST00000684332.1:n.2618-127_2618-99del
ENST00000684371.1:n.2651-127_2651-99del
ENST00000684404.1:n.2542-127_2542-99del
ENST00000684442.1:n.2545-127_2545-99del
ENST00000684555.1:c.*688-127_*688-99del	ENSP00000507705.1:n.*688-127_*688-99del
ENST00000684571.1:c.2317-127_2317-99del	ENSP00000506935.1:n.2317-127_2317-99del
ENST00000684593.1:c.*2181-127_*2181-99del	ENSP00000507005.1:n.*2181-127_*2181-99del
ENST00000684711.1:c.*872-127_*872-99del	ENSP00000506841.1:n.*872-127_*872-99del
ENST00000302539.9:c.2479-127_2479-99del	ENSP00000303960.4:n.2479-127_2479-99del
ENST00000389817.8:c.2476-127_2476-99del MANE Select	ENSP00000374467.4:n.2476-127_2476-99del
ENST00000642271.1:c.2473-127_2473-99del	ENSP00000493749.1:n.2473-127_2473-99del
ENST00000642579.1:c.560-127_560-99del
ENST00000642611.1:n.2430-127_2430-99del
ENST00000642902.1:c.2311-127_2311-99del
ENST00000643260.1:c.2476-127_2476-99del	ENSP00000494450.1:n.2476-127_2476-99del
ENST00000643562.1:c.*452-127_*452-99del	ENSP00000496124.1:n.*452-127_*452-99del
ENST00000643925.1:c.519+1_519+29del
ENST00000644447.1:c.832-127_832-99del	ENSP00000496282.1:n.832-127_832-99del
ENST00000644472.1:c.*837-127_*837-99del	ENSP00000495378.1:n.*837-127_*837-99del
ENST00000644484.1:c.*685-127_*685-99del	ENSP00000493558.1:n.*685-127_*685-99del
ENST00000644542.1:c.*2181-127_*2181-99del	ENSP00000495532.1:n.*2181-127_*2181-99del
ENST00000644675.1:c.*648-127_*648-99del	ENSP00000494567.1:n.*648-127_*648-99del
ENST00000644757.1:c.*781-127_*781-99del	ENSP00000495085.1:n.*781-127_*781-99del
ENST00000644772.1:c.2542-127_2542-99del	ENSP00000494321.1:n.2542-127_2542-99del
ENST00000645076.1:c.1728-127_1728-99del
ENST00000645744.1:c.*840-127_*840-99del	ENSP00000494564.1:n.*840-127_*840-99del
ENST00000645760.1:c.2751-127_2751-99del
ENST00000645884.1:c.2476-127_2476-99del	ENSP00000495516.1:n.2476-127_2476-99del
ENST00000646003.1:c.*532-127_*532-99del	ENSP00000495259.1:n.*532-127_*532-99del
ENST00000646207.1:c.*840-127_*840-99del	ENSP00000495025.1:n.*840-127_*840-99del
ENST00000646276.1:c.*749-127_*749-99del	ENSP00000496070.1:n.*749-127_*749-99del
ENST00000646592.1:c.1702-127_1702-99del
ENST00000646902.1:c.2473-127_2473-99del	ENSP00000494101.1:n.2473-127_2473-99del
ENST00000646993.1:c.*872-127_*872-99del	ENSP00000493720.1:n.*872-127_*872-99del
ENST00000647013.1:c.2482-127_2482-99del	ENSP00000496741.1:n.2482-127_2482-99del
ENST00000647015.1:c.2227-127_2227-99del	ENSP00000495389.1:n.2227-127_2227-99del
ENST00000647086.1:c.*2206-127_*2206-99del	ENSP00000493677.1:n.*2206-127_*2206-99del
ENST00000647158.1:c.*617-127_*617-99del	ENSP00000495744.1:n.*617-127_*617-99del
ENST00000302539.8:c.2479-127_2479-99del	ENSP00000303960.4:n.2479-127_2479-99del
ENST00000389817.7:c.2476-127_2476-99del	ENSP00000374467.3:n.2476-127_2476-99del
ENST00000526921.5:n.160-127_160-99del
ENST00000527905.5:c.2446-127_2446-99del	ENSP00000431653.1:n.2446-127_2446-99del
ENST00000529967.5:n.145-127_145-99del
ENST00000530147.5:n.59-127_59-99del
ENST00000531911.1:n.590-127_590-99del
NM_000352.4:c.2476-127_2476-99del	NP_000343.2:n.2476-127_2476-99del
NM_001287174.1:c.2479-127_2479-99del	NP_001274103.1:n.2479-127_2479-99del
XM_011520331.1:c.2476-127_2476-99del	XP_011518633.1:n.2476-127_2476-99del
XM_011520332.1:c.2479-127_2479-99del	XP_011518634.1:n.2479-127_2479-99del
XM_011520333.1:c.976-127_976-99del	XP_011518635.1:n.976-127_976-99del
XM_011520334.1:c.2479-127_2479-99del	XP_011518636.1:n.2479-127_2479-99del
XR_930890.1:n.2542-127_2542-99del
XR_930891.1:n.2542-127_2542-99del
XR_930892.1:n.2542-127_2542-99del
XR_930893.1:n.2539-127_2539-99del
NM_001351295.1:c.2542-127_2542-99del	NP_001338224.1:n.2542-127_2542-99del
NM_001351296.1:c.2476-127_2476-99del	NP_001338225.1:n.2476-127_2476-99del
NM_001351297.1:c.2473-127_2473-99del	NP_001338226.1:n.2473-127_2473-99del
NR_147094.1:n.2545-127_2545-99del
XM_017018197.2:c.2545-127_2545-99del	XP_016873686.1:n.2545-127_2545-99del
XM_017018199.1:c.2542-127_2542-99del	XP_016873688.1:n.2542-127_2542-99del
XM_017018201.2:c.2545-127_2545-99del	XP_016873690.1:n.2545-127_2545-99del
XM_017018202.1:c.1042-127_1042-99del	XP_016873691.1:n.1042-127_1042-99del
XM_017018204.1:c.433-127_433-99del	XP_016873693.1:n.433-127_433-99del
XM_024448668.1:c.844-127_844-99del	XP_024304436.1:n.844-127_844-99del
XR_001747945.2:n.2617-127_2617-99del
XR_001747946.2:n.2548-127_2548-99del
XR_002957189.1:n.2617-127_2617-99del
NM_000352.6:c.2476-127_2476-99del MANE Select	NP_000343.2:n.2476-127_2476-99del
NM_001287174.2:c.2479-127_2479-99del	NP_001274103.1:n.2479-127_2479-99del
NM_001351295.2:c.2542-127_2542-99del	NP_001338224.1:n.2542-127_2542-99del
NM_001351296.2:c.2476-127_2476-99del	NP_001338225.1:n.2476-127_2476-99del
NM_001351297.2:c.2473-127_2473-99del	NP_001338226.1:n.2473-127_2473-99del
NR_147094.2:n.2545-127_2545-99del
NM_001287174.3:c.2479-127_2479-99del	NP_001274103.1:n.2479-127_2479-99del