Canonical Allele Identifier: CA2112099166

Gene: ABCC4

Linked Data

• dbSNP Id: rs2033299239

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061613_95061614insCTGT , CM000675.2:g.95061613_95061614insCTGT	GRCh38
NC_000013.10:g.95713867_95713868insCTGT , CM000675.1:g.95713867_95713868insCTGT	GRCh37
NC_000013.9:g.94511868_94511869insCTGT	NCBI36
NG_050651.1:g.244836_244837insGACA
NG_050651.2:g.244836_244837insGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1093_*991+1094insGACA	ENSP00000495513.1:n.*991+1093_*991+1094insGACA
ENST00000643842.1:c.*3412+1093_*3412+1094insGACA	ENSP00000493861.1:n.*3412+1093_*3412+1094insGACA
ENST00000645237.2:c.3366+1093_3366+1094insGACA MANE Select	ENSP00000494609.1:n.3366+1093_3366+1094insGACA
ENST00000646439.1:c.3225+1093_3225+1094insGACA	ENSP00000494751.1:n.3225+1093_3225+1094insGACA
ENST00000376887.8:c.3366+1093_3366+1094insGACA	ENSP00000366084.4:n.3366+1093_3366+1094insGACA
NM_001301829.1:c.3225+1093_3225+1094insGACA	NP_001288758.1:n.3225+1093_3225+1094insGACA
NM_005845.4:c.3366+1093_3366+1094insGACA	NP_005836.2:n.3366+1093_3366+1094insGACA
XM_005254025.2:c.3237+1093_3237+1094insGACA	XP_005254082.1:n.3237+1093_3237+1094insGACA
XM_006719914.1:c.3276+1093_3276+1094insGACA	XP_006719977.1:n.3276+1093_3276+1094insGACA
XM_011521047.1:c.2817+1093_2817+1094insGACA	XP_011519349.1:n.2817+1093_2817+1094insGACA
XM_017020319.1:c.3237+1093_3237+1094insGACA	XP_016875808.1:n.3237+1093_3237+1094insGACA
XM_017020321.1:c.1851+1093_1851+1094insGACA	XP_016875810.1:n.1851+1093_1851+1094insGACA
NM_001301829.2:c.3225+1093_3225+1094insGACA	NP_001288758.1:n.3225+1093_3225+1094insGACA
NM_005845.5:c.3366+1093_3366+1094insGACA MANE Select	NP_005836.2:n.3366+1093_3366+1094insGACA