Canonical Allele Identifier: CA218451683

Gene: ABCC8

Linked Data

• dbSNP Id: rs374143311
• gnomAD v4: 11-17460852-GCCCTATCAACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17460855_17460865del , CM000673.2:g.17460855_17460865del	GRCh38
NC_000011.9:g.17482402_17482412del , CM000673.1:g.17482402_17482412del	GRCh37
NC_000011.8:g.17438978_17438988del	NCBI36
NG_008867.1:g.21040_21050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.648+2575_648+2585del
ENST00000526002.2:n.836-187_836-177del
ENST00000528202.6:n.889-187_889-177del
ENST00000642611.2:n.889-187_889-177del
ENST00000682051.1:n.836-187_836-177del
ENST00000682091.1:n.1611_1621del
ENST00000682110.1:n.889-187_889-177del
ENST00000682140.1:c.820-187_820-177del	ENSP00000507829.1:n.820-187_820-177del
ENST00000682199.1:n.889-187_889-177del
ENST00000682204.1:c.820-187_820-177del	ENSP00000507094.1:n.820-187_820-177del
ENST00000682215.1:n.889-187_889-177del
ENST00000682288.1:c.820-187_820-177del	ENSP00000507506.1:n.820-187_820-177del
ENST00000682442.1:n.923-187_923-177del
ENST00000682528.1:n.889-187_889-177del
ENST00000682673.1:n.836-187_836-177del
ENST00000682805.1:n.889-187_889-177del
ENST00000682863.1:n.889-187_889-177del
ENST00000682965.1:c.820-187_820-177del	ENSP00000508229.1:n.820-187_820-177del
ENST00000683093.1:n.889-187_889-177del
ENST00000683136.1:c.820-187_820-177del	ENSP00000507768.1:n.820-187_820-177del
ENST00000683153.1:n.889-187_889-177del
ENST00000683253.1:n.1616_1626del
ENST00000683365.1:n.889-187_889-177del
ENST00000683377.1:n.889-187_889-177del
ENST00000683456.1:c.820-187_820-177del	ENSP00000508318.1:n.820-187_820-177del
ENST00000683522.1:n.889-187_889-177del
ENST00000683531.1:n.892-187_892-177del
ENST00000683562.1:c.823-187_823-177del	ENSP00000508265.1:n.823-187_823-177del
ENST00000683693.1:n.889-187_889-177del
ENST00000683725.1:c.823-187_823-177del	ENSP00000507496.1:n.823-187_823-177del
ENST00000684010.1:n.889-187_889-177del
ENST00000684157.1:n.889-187_889-177del
ENST00000684221.1:n.1472_1482del
ENST00000684253.1:n.941-187_941-177del
ENST00000684288.1:c.823-187_823-177del	ENSP00000507143.1:n.823-187_823-177del
ENST00000684313.1:n.916-187_916-177del
ENST00000684332.1:n.889-187_889-177del
ENST00000684371.1:n.836-187_836-177del
ENST00000684404.1:n.889-187_889-177del
ENST00000684442.1:n.889-187_889-177del
ENST00000684555.1:c.823-187_823-177del	ENSP00000507705.1:n.823-187_823-177del
ENST00000684571.1:c.820-187_820-177del	ENSP00000506935.1:n.820-187_820-177del
ENST00000684593.1:c.*528-187_*528-177del	ENSP00000507005.1:n.*528-187_*528-177del
ENST00000684711.1:c.820-187_820-177del	ENSP00000506841.1:n.820-187_820-177del
ENST00000302539.9:c.823-187_823-177del	ENSP00000303960.4:n.823-187_823-177del
ENST00000389817.8:c.823-187_823-177del MANE Select	ENSP00000374467.4:n.823-187_823-177del
ENST00000532728.6:c.699-187_699-177del
ENST00000635881.1:n.851-187_851-177del
ENST00000642271.1:c.820-187_820-177del	ENSP00000493749.1:n.820-187_820-177del
ENST00000642611.1:n.774-187_774-177del
ENST00000642902.1:c.804-187_804-177del
ENST00000643260.1:c.820-187_820-177del	ENSP00000494450.1:n.820-187_820-177del
ENST00000643562.1:c.823-187_823-177del	ENSP00000496124.1:n.823-187_823-177del
ENST00000644472.1:c.820-187_820-177del	ENSP00000495378.1:n.820-187_820-177del
ENST00000644484.1:c.820-187_820-177del	ENSP00000493558.1:n.820-187_820-177del
ENST00000644542.1:c.*525-187_*525-177del	ENSP00000495532.1:n.*525-187_*525-177del
ENST00000644675.1:c.820-187_820-177del	ENSP00000494567.1:n.820-187_820-177del
ENST00000644757.1:c.823-187_823-177del	ENSP00000495085.1:n.823-187_823-177del
ENST00000644772.1:c.823-187_823-177del	ENSP00000494321.1:n.823-187_823-177del
ENST00000645076.1:c.105-187_105-177del
ENST00000645744.1:c.820-187_820-177del	ENSP00000494564.1:n.820-187_820-177del
ENST00000645760.1:c.996-187_996-177del
ENST00000645884.1:c.820-187_820-177del	ENSP00000495516.1:n.820-187_820-177del
ENST00000646003.1:c.820-187_820-177del	ENSP00000495259.1:n.820-187_820-177del
ENST00000646207.1:c.820-187_820-177del	ENSP00000495025.1:n.820-187_820-177del
ENST00000646276.1:c.799-187_799-177del	ENSP00000496070.1:n.799-187_799-177del
ENST00000646592.1:c.74-187_74-177del
ENST00000646737.1:c.*730_*740del	ENSP00000494874.1:n.*730_*740del
ENST00000646902.1:c.820-187_820-177del	ENSP00000494101.1:n.820-187_820-177del
ENST00000646993.1:c.823-187_823-177del	ENSP00000493720.1:n.823-187_823-177del
ENST00000647013.1:c.721-187_721-177del	ENSP00000496741.1:n.721-187_721-177del
ENST00000647015.1:c.823-187_823-177del	ENSP00000495389.1:n.823-187_823-177del
ENST00000647086.1:c.820-187_820-177del	ENSP00000493677.1:n.820-187_820-177del
ENST00000647158.1:c.820-187_820-177del	ENSP00000495744.1:n.820-187_820-177del
ENST00000302539.8:c.823-187_823-177del	ENSP00000303960.4:n.823-187_823-177del
ENST00000389817.7:c.823-187_823-177del	ENSP00000374467.3:n.823-187_823-177del
ENST00000527905.5:c.823-187_823-177del	ENSP00000431653.1:n.823-187_823-177del
ENST00000532728.5:n.854-187_854-177del
NM_000352.4:c.823-187_823-177del	NP_000343.2:n.823-187_823-177del
NM_001287174.1:c.823-187_823-177del	NP_001274103.1:n.823-187_823-177del
XM_011520331.1:c.820-187_820-177del	XP_011518633.1:n.820-187_820-177del
XM_011520332.1:c.823-187_823-177del	XP_011518634.1:n.823-187_823-177del
XM_011520334.1:c.823-187_823-177del	XP_011518636.1:n.823-187_823-177del
XR_930890.1:n.886-187_886-177del
XR_930891.1:n.886-187_886-177del
XR_930892.1:n.886-187_886-177del
XR_930893.1:n.886-187_886-177del
NM_001351295.1:c.823-187_823-177del	NP_001338224.1:n.823-187_823-177del
NM_001351296.1:c.820-187_820-177del	NP_001338225.1:n.820-187_820-177del
NM_001351297.1:c.820-187_820-177del	NP_001338226.1:n.820-187_820-177del
NR_147094.1:n.889-187_889-177del
XM_017018197.2:c.823-187_823-177del	XP_016873686.1:n.823-187_823-177del
XM_017018199.1:c.820-187_820-177del	XP_016873688.1:n.820-187_820-177del
XM_017018201.2:c.823-187_823-177del	XP_016873690.1:n.823-187_823-177del
XM_017018202.1:c.-695-187_-695-177del	XP_016873691.1:n.-695-187_-695-177del
XM_024448668.1:c.-1102_-1092del	XP_024304436.1:n.-1102_-1092del
XR_001747945.2:n.895-187_895-177del
XR_001747946.2:n.895-187_895-177del
XR_002957189.1:n.895-187_895-177del
NM_000352.6:c.823-187_823-177del MANE Select	NP_000343.2:n.823-187_823-177del
NM_001287174.2:c.823-187_823-177del	NP_001274103.1:n.823-187_823-177del
NM_001351295.2:c.823-187_823-177del	NP_001338224.1:n.823-187_823-177del
NM_001351296.2:c.820-187_820-177del	NP_001338225.1:n.820-187_820-177del
NM_001351297.2:c.820-187_820-177del	NP_001338226.1:n.820-187_820-177del
NR_147094.2:n.889-187_889-177del
NM_001287174.3:c.823-187_823-177del	NP_001274103.1:n.823-187_823-177del