Canonical Allele Identifier: CA2695213313
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412747del , CM000673.2:g.17412747del GRCh38
NC_000011.9:g.17434294del , CM000673.1:g.17434294del GRCh37
NC_000011.8:g.17390870del NCBI36
NG_008867.1:g.69158del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2146del
ENST00000529967.6:n.736del
ENST00000642611.2:n.2546del
ENST00000682051.1:n.2493del
ENST00000682110.1:n.2546del
ENST00000682140.1:c.2474del
ENST00000682185.1:n.3782del
ENST00000682204.1:c.*615del
ENST00000682215.1:n.2543del
ENST00000682288.1:c.*908del
ENST00000682442.1:n.2667del
ENST00000682528.1:n.2543del
ENST00000682673.1:n.2490del
ENST00000682805.1:n.2543del
ENST00000682965.1:c.2474del
ENST00000683093.1:n.2645del
ENST00000683136.1:c.2474del
ENST00000683153.1:n.2702del
ENST00000683365.1:n.2648del
ENST00000683377.1:n.2546del
ENST00000683456.1:c.2477del
ENST00000683522.1:n.2546del
ENST00000683562.1:c.*646del
ENST00000683693.1:n.2543del
ENST00000683725.1:c.2477del
ENST00000684010.1:n.2461del
ENST00000684157.1:n.2546del
ENST00000684253.1:n.2449del
ENST00000684288.1:c.*649del
ENST00000684313.1:n.1978del
ENST00000684332.1:n.2619del
ENST00000684371.1:n.2652del
ENST00000684404.1:n.2543del
ENST00000684442.1:n.2546del
ENST00000684555.1:c.*689del
ENST00000684571.1:c.2318del
ENST00000684593.1:c.*2182del
ENST00000684711.1:c.*873del
ENST00000302539.9:c.2480del
ENST00000389817.8:c.2477del
ENST00000642271.1:c.2474del
ENST00000642579.1:c.561del
ENST00000642611.1:n.2431del
ENST00000642902.1:c.2312del
ENST00000643260.1:c.2477del
ENST00000643562.1:c.*453del
ENST00000643925.1:c.521del
ENST00000644447.1:c.833del
ENST00000644472.1:c.*838del
ENST00000644484.1:c.*686del
ENST00000644542.1:c.*2182del
ENST00000644675.1:c.*649del
ENST00000644757.1:c.*782del
ENST00000644772.1:c.2543del
ENST00000645076.1:c.1729del
ENST00000645744.1:c.*841del
ENST00000645760.1:c.2752del
ENST00000645884.1:c.2477del
ENST00000646003.1:c.*533del
ENST00000646207.1:c.*841del
ENST00000646276.1:c.*750del
ENST00000646592.1:c.1703del
ENST00000646902.1:c.2474del
ENST00000646993.1:c.*873del
ENST00000647013.1:c.2483del
ENST00000647015.1:c.2228del
ENST00000647086.1:c.*2207del
ENST00000647158.1:c.*618del
ENST00000302539.8:c.2480del
ENST00000389817.7:c.2477del
ENST00000526921.5:n.161del
ENST00000527905.5:c.2447del
ENST00000529967.5:n.146del
ENST00000530147.5:n.60del
ENST00000531911.1:n.591del
NM_000352.4:c.2477del
NM_001287174.1:c.2480del
XM_011520331.1:c.2477del
XM_011520332.1:c.2480del
XM_011520333.1:c.977del
XM_011520334.1:c.2480del
XR_930890.1:n.2543del
XR_930891.1:n.2543del
XR_930892.1:n.2543del
XR_930893.1:n.2540del
NM_001351295.1:c.2543del
NM_001351296.1:c.2477del
NM_001351297.1:c.2474del
NR_147094.1:n.2546del
XM_017018197.2:c.2546del
XM_017018199.1:c.2543del
XM_017018201.2:c.2546del
XM_017018202.1:c.1043del
XM_017018204.1:c.434del
XM_024448668.1:c.845del
XR_001747945.2:n.2618del
XR_001747946.2:n.2549del
XR_002957189.1:n.2618del
NM_000352.6:c.2477del
NM_001287174.2:c.2480del
NM_001351295.2:c.2543del
NM_001351296.2:c.2477del
NM_001351297.2:c.2474del
NR_147094.2:n.2546del
NM_001287174.3:c.2480del