Canonical Allele Identifier: CA2561150725
Gene: ABCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95061610_95061611insCG , CM000675.2:g.95061610_95061611insCG GRCh38
NC_000013.10:g.95713864_95713865insCG , CM000675.1:g.95713864_95713865insCG GRCh37
NC_000013.9:g.94511865_94511866insCG NCBI36
NG_050651.1:g.244837_244838insGC
NG_050651.2:g.244837_244838insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000643051.1:c.*991+1094_*991+1095insGC ENSP00000495513.1:n.*991+1094_*991+1095insGC
ENST00000643842.1:c.*3412+1094_*3412+1095insGC ENSP00000493861.1:n.*3412+1094_*3412+1095insGC
ENST00000645237.2:c.3366+1094_3366+1095insGC MANE Select ENSP00000494609.1:n.3366+1094_3366+1095insGC
ENST00000646439.1:c.3225+1094_3225+1095insGC ENSP00000494751.1:n.3225+1094_3225+1095insGC
ENST00000376887.8:c.3366+1094_3366+1095insGC ENSP00000366084.4:n.3366+1094_3366+1095insGC
NM_001301829.1:c.3225+1094_3225+1095insGC NP_001288758.1:n.3225+1094_3225+1095insGC
NM_005845.4:c.3366+1094_3366+1095insGC NP_005836.2:n.3366+1094_3366+1095insGC
XM_005254025.2:c.3237+1094_3237+1095insGC XP_005254082.1:n.3237+1094_3237+1095insGC
XM_006719914.1:c.3276+1094_3276+1095insGC XP_006719977.1:n.3276+1094_3276+1095insGC
XM_011521047.1:c.2817+1094_2817+1095insGC XP_011519349.1:n.2817+1094_2817+1095insGC
XM_017020319.1:c.3237+1094_3237+1095insGC XP_016875808.1:n.3237+1094_3237+1095insGC
XM_017020321.1:c.1851+1094_1851+1095insGC XP_016875810.1:n.1851+1094_1851+1095insGC
NM_001301829.2:c.3225+1094_3225+1095insGC NP_001288758.1:n.3225+1094_3225+1095insGC
NM_005845.5:c.3366+1094_3366+1095insGC MANE Select NP_005836.2:n.3366+1094_3366+1095insGC