Canonical Allele Identifier: CA2800214716

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061649_95061650dup , CM000675.2:g.95061649_95061650dup	GRCh38
NC_000013.10:g.95713903_95713904dup , CM000675.1:g.95713903_95713904dup	GRCh37
NC_000013.9:g.94511904_94511905dup	NCBI36
NG_050651.1:g.244799_244800dup
NG_050651.2:g.244799_244800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1056_*991+1057dup	ENSP00000495513.1:n.*991+1056_*991+1057dup
ENST00000643842.1:c.*3412+1056_*3412+1057dup	ENSP00000493861.1:n.*3412+1056_*3412+1057dup
ENST00000645237.2:c.3366+1056_3366+1057dup MANE Select	ENSP00000494609.1:n.3366+1056_3366+1057dup
ENST00000646439.1:c.3225+1056_3225+1057dup	ENSP00000494751.1:n.3225+1056_3225+1057dup
ENST00000376887.8:c.3366+1056_3366+1057dup	ENSP00000366084.4:n.3366+1056_3366+1057dup
NM_001301829.1:c.3225+1056_3225+1057dup	NP_001288758.1:n.3225+1056_3225+1057dup
NM_005845.4:c.3366+1056_3366+1057dup	NP_005836.2:n.3366+1056_3366+1057dup
XM_005254025.2:c.3237+1056_3237+1057dup	XP_005254082.1:n.3237+1056_3237+1057dup
XM_006719914.1:c.3276+1056_3276+1057dup	XP_006719977.1:n.3276+1056_3276+1057dup
XM_011521047.1:c.2817+1056_2817+1057dup	XP_011519349.1:n.2817+1056_2817+1057dup
XM_017020319.1:c.3237+1056_3237+1057dup	XP_016875808.1:n.3237+1056_3237+1057dup
XM_017020321.1:c.1851+1056_1851+1057dup	XP_016875810.1:n.1851+1056_1851+1057dup
NM_001301829.2:c.3225+1056_3225+1057dup	NP_001288758.1:n.3225+1056_3225+1057dup
NM_005845.5:c.3366+1056_3366+1057dup MANE Select	NP_005836.2:n.3366+1056_3366+1057dup