Canonical Allele Identifier: CA2574768440

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395667-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395670del , CM000673.2:g.17395670del	GRCh38
NC_000011.9:g.17417217del , CM000673.1:g.17417217del	GRCh37
NC_000011.8:g.17373793del	NCBI36
NG_008867.1:g.86235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3850del
ENST00000528374.2:c.840del
ENST00000529967.6:n.2588del
ENST00000532220.2:n.3482del
ENST00000642611.2:n.5582del
ENST00000644057.2:n.825del
ENST00000645004.2:n.1748del
ENST00000682051.1:n.4411del
ENST00000682110.1:n.4464del
ENST00000682140.1:c.*35del	ENSP00000507829.1:n.*35del
ENST00000682185.1:n.5554del
ENST00000682204.1:c.*2387del	ENSP00000507094.1:n.*2387del
ENST00000682215.1:n.4831del
ENST00000682288.1:c.*2680del	ENSP00000507506.1:n.*2680del
ENST00000682442.1:n.4684del
ENST00000682528.1:n.4541del
ENST00000682673.1:n.4408del
ENST00000682805.1:n.4869del
ENST00000682965.1:c.*671del	ENSP00000508229.1:n.*671del
ENST00000683093.1:n.5548del
ENST00000683136.1:c.4132del	ENSP00000507768.1:p.Leu1378CysfsTer?
ENST00000683153.1:n.4506del
ENST00000683365.1:n.4566del
ENST00000683377.1:n.4464del
ENST00000683456.1:c.*1386del	ENSP00000508318.1:n.*1386del
ENST00000683522.1:n.4464del
ENST00000683562.1:c.*2418del	ENSP00000508265.1:n.*2418del
ENST00000683693.1:n.6029del
ENST00000683725.1:c.4249del	ENSP00000507496.1:p.Leu1417CysfsTer?
ENST00000684010.1:n.4459del
ENST00000684157.1:n.5449del
ENST00000684253.1:n.4367del
ENST00000684288.1:c.*2421del	ENSP00000507143.1:n.*2421del
ENST00000684313.1:n.3896del
ENST00000684332.1:n.4537del
ENST00000684371.1:n.4570del
ENST00000684404.1:n.5492del
ENST00000684442.1:n.4688del
ENST00000684555.1:c.*2461del	ENSP00000507705.1:n.*2461del
ENST00000684571.1:c.4090del	ENSP00000506935.1:p.Leu1364CysfsTer?
ENST00000684593.1:c.*3954del	ENSP00000507005.1:n.*3954del
ENST00000684711.1:c.*2645del	ENSP00000506841.1:n.*2645del
ENST00000302539.9:c.4252del	ENSP00000303960.4:p.Leu1418CysfsTer?
ENST00000389817.8:c.4249del MANE Select	ENSP00000374467.4:p.Leu1417CysfsTer?
ENST00000642271.1:c.4246del	ENSP00000493749.1:p.Leu1416CysfsTer?
ENST00000642579.1:c.2303del
ENST00000642611.1:n.5467del
ENST00000642902.1:c.4031del
ENST00000643260.1:c.4249del	ENSP00000494450.1:p.Leu1417CysfsTer?
ENST00000643562.1:c.*2371del	ENSP00000496124.1:n.*2371del
ENST00000643925.1:c.2889del
ENST00000644057.1:n.326del
ENST00000644484.1:c.*3635del	ENSP00000493558.1:n.*3635del
ENST00000644675.1:c.*2421del	ENSP00000494567.1:n.*2421del
ENST00000644757.1:c.*3202+596del	ENSP00000495085.1:n.*3202+596del
ENST00000644772.1:c.4315del	ENSP00000494321.1:p.Leu1439CysfsTer?
ENST00000645004.1:n.1942del
ENST00000645076.1:c.3448del
ENST00000645417.1:c.1437del
ENST00000645744.1:c.*3964-30del	ENSP00000494564.1:n.*3964-30del
ENST00000645760.1:c.4670del
ENST00000645884.1:c.*1532del	ENSP00000495516.1:n.*1532del
ENST00000646003.1:c.*2301-30del	ENSP00000495259.1:n.*2301-30del
ENST00000646207.1:c.*3086del	ENSP00000495025.1:n.*3086del
ENST00000646276.1:c.*3653del	ENSP00000496070.1:n.*3653del
ENST00000646592.1:c.3555del
ENST00000646902.1:c.4216del	ENSP00000494101.1:p.Leu1406CysfsTer?
ENST00000646993.1:c.*2791del	ENSP00000493720.1:n.*2791del
ENST00000647013.1:c.4255del	ENSP00000496741.1:n.4255del
ENST00000647015.1:c.4000del	ENSP00000495389.1:p.Leu1334CysfsTer?
ENST00000647086.1:c.*3835del	ENSP00000493677.1:n.*3835del
ENST00000647158.1:c.*2536del	ENSP00000495744.1:n.*2536del
ENST00000302539.8:c.4252del	ENSP00000303960.4:p.Leu1418CysfsTer?
ENST00000389817.7:c.4249del	ENSP00000374467.3:p.Leu1417CysfsTer?
ENST00000525022.1:n.248del
ENST00000526037.5:n.113del
ENST00000526168.5:c.67-30del
ENST00000531642.5:c.85del
NM_000352.4:c.4249del	NP_000343.2:p.Leu1417CysfsTer?
NM_001287174.1:c.4252del	NP_001274103.1:p.Leu1418CysfsTer?
XM_011520331.1:c.4249del	XP_011518633.1:p.Leu1417CysfsTer?
XM_011520332.1:c.4252del	XP_011518634.1:p.Leu1418CysfsTer?
XM_011520333.1:c.2749del	XP_011518635.1:p.Leu917CysfsTer?
XR_930890.1:n.4315del
NM_001351295.1:c.4315del	NP_001338224.1:p.Leu1439CysfsTer?
NM_001351296.1:c.4249del	NP_001338225.1:p.Leu1417CysfsTer?
NM_001351297.1:c.4246del	NP_001338226.1:p.Leu1416CysfsTer?
NR_147094.1:n.4544del
XM_017018197.2:c.4318del	XP_016873686.1:p.Leu1440CysfsTer?
XM_017018199.1:c.4315del	XP_016873688.1:p.Leu1439CysfsTer?
XM_017018201.2:c.4318del	XP_016873690.1:p.Leu1440CysfsTer?
XM_017018202.1:c.2815del	XP_016873691.1:p.Leu939CysfsTer?
XM_017018204.1:c.2206del	XP_016873693.1:p.Leu736CysfsTer?
XM_024448668.1:c.2617del	XP_024304436.1:p.Leu873CysfsTer?
XR_001747945.2:n.4390del
XR_001747946.2:n.4321del
XR_002957189.1:n.6104del
NM_000352.6:c.4249del MANE Select	NP_000343.2:p.Leu1417CysfsTer?
NM_001287174.2:c.4252del	NP_001274103.1:p.Leu1418CysfsTer?
NM_001351295.2:c.4315del	NP_001338224.1:p.Leu1439CysfsTer?
NM_001351296.2:c.4249del	NP_001338225.1:p.Leu1417CysfsTer?
NM_001351297.2:c.4246del	NP_001338226.1:p.Leu1416CysfsTer?
NR_147094.2:n.4544del
NM_001287174.3:c.4252del	NP_001274103.1:p.Leu1418CysfsTer?