Canonical Allele Identifier: CA2800214707

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061605_95061613del , CM000675.2:g.95061605_95061613del	GRCh38
NC_000013.10:g.95713859_95713867del , CM000675.1:g.95713859_95713867del	GRCh37
NC_000013.9:g.94511860_94511868del	NCBI36
NG_050651.1:g.244834_244842del
NG_050651.2:g.244834_244842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1091_*991+1099del	ENSP00000495513.1:n.*991+1091_*991+1099del
ENST00000643842.1:c.*3412+1091_*3412+1099del	ENSP00000493861.1:n.*3412+1091_*3412+1099del
ENST00000645237.2:c.3366+1091_3366+1099del MANE Select	ENSP00000494609.1:n.3366+1091_3366+1099del
ENST00000646439.1:c.3225+1091_3225+1099del	ENSP00000494751.1:n.3225+1091_3225+1099del
ENST00000376887.8:c.3366+1091_3366+1099del	ENSP00000366084.4:n.3366+1091_3366+1099del
NM_001301829.1:c.3225+1091_3225+1099del	NP_001288758.1:n.3225+1091_3225+1099del
NM_005845.4:c.3366+1091_3366+1099del	NP_005836.2:n.3366+1091_3366+1099del
XM_005254025.2:c.3237+1091_3237+1099del	XP_005254082.1:n.3237+1091_3237+1099del
XM_006719914.1:c.3276+1091_3276+1099del	XP_006719977.1:n.3276+1091_3276+1099del
XM_011521047.1:c.2817+1091_2817+1099del	XP_011519349.1:n.2817+1091_2817+1099del
XM_017020319.1:c.3237+1091_3237+1099del	XP_016875808.1:n.3237+1091_3237+1099del
XM_017020321.1:c.1851+1091_1851+1099del	XP_016875810.1:n.1851+1091_1851+1099del
NM_001301829.2:c.3225+1091_3225+1099del	NP_001288758.1:n.3225+1091_3225+1099del
NM_005845.5:c.3366+1091_3366+1099del MANE Select	NP_005836.2:n.3366+1091_3366+1099del