Canonical Allele Identifier: CA2800214701

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061603_95061604insAT , CM000675.2:g.95061603_95061604insAT	GRCh38
NC_000013.10:g.95713857_95713858insAT , CM000675.1:g.95713857_95713858insAT	GRCh37
NC_000013.9:g.94511858_94511859insAT	NCBI36
NG_050651.1:g.244844_244845insTA
NG_050651.2:g.244844_244845insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1101_*991+1102insTA	ENSP00000495513.1:n.*991+1101_*991+1102insTA
ENST00000643842.1:c.*3412+1101_*3412+1102insTA	ENSP00000493861.1:n.*3412+1101_*3412+1102insTA
ENST00000645237.2:c.3366+1101_3366+1102insTA MANE Select	ENSP00000494609.1:n.3366+1101_3366+1102insTA
ENST00000646439.1:c.3225+1101_3225+1102insTA	ENSP00000494751.1:n.3225+1101_3225+1102insTA
ENST00000376887.8:c.3366+1101_3366+1102insTA	ENSP00000366084.4:n.3366+1101_3366+1102insTA
NM_001301829.1:c.3225+1101_3225+1102insTA	NP_001288758.1:n.3225+1101_3225+1102insTA
NM_005845.4:c.3366+1101_3366+1102insTA	NP_005836.2:n.3366+1101_3366+1102insTA
XM_005254025.2:c.3237+1101_3237+1102insTA	XP_005254082.1:n.3237+1101_3237+1102insTA
XM_006719914.1:c.3276+1101_3276+1102insTA	XP_006719977.1:n.3276+1101_3276+1102insTA
XM_011521047.1:c.2817+1101_2817+1102insTA	XP_011519349.1:n.2817+1101_2817+1102insTA
XM_017020319.1:c.3237+1101_3237+1102insTA	XP_016875808.1:n.3237+1101_3237+1102insTA
XM_017020321.1:c.1851+1101_1851+1102insTA	XP_016875810.1:n.1851+1101_1851+1102insTA
NM_001301829.2:c.3225+1101_3225+1102insTA	NP_001288758.1:n.3225+1101_3225+1102insTA
NM_005845.5:c.3366+1101_3366+1102insTA MANE Select	NP_005836.2:n.3366+1101_3366+1102insTA