Canonical Allele Identifier: CA2112099104

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061554_95061556delinsCTT , CM000675.2:g.95061554_95061556delinsCTT	GRCh38
NC_000013.10:g.95713808_95713810delinsCTT , CM000675.1:g.95713808_95713810delinsCTT	GRCh37
NC_000013.9:g.94511809_94511811delinsCTT	NCBI36
NG_050651.1:g.244891_244893delinsAAG
NG_050651.2:g.244891_244893delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000643051.1:c.*991+1148_*991+1150delinsAAG	ENSP00000495513.1:n.*991+1148_*991+1150de...
ENST00000643842.1:c.*3412+1148_*3412+1150delinsAAG	ENSP00000493861.1:n.*3412+1148_*3412+1150...
ENST00000645237.2:c.3366+1148_3366+1150delinsAAG MANE Select	ENSP00000494609.1:n.3366+1148_3366+1150de...
ENST00000646439.1:c.3225+1148_3225+1150delinsAAG	ENSP00000494751.1:n.3225+1148_3225+1150de...
ENST00000376887.8:c.3366+1148_3366+1150delinsAAG	ENSP00000366084.4:n.3366+1148_3366+1150de...
NM_001301829.1:c.3225+1148_3225+1150delinsAAG	NP_001288758.1:n.3225+1148_3225+1150delin...
NM_005845.4:c.3366+1148_3366+1150delinsAAG	NP_005836.2:n.3366+1148_3366+1150delinsAA...
XM_005254025.2:c.3237+1148_3237+1150delinsAAG	XP_005254082.1:n.3237+1148_3237+1150delin...
XM_006719914.1:c.3276+1148_3276+1150delinsAAG	XP_006719977.1:n.3276+1148_3276+1150delin...
XM_011521047.1:c.2817+1148_2817+1150delinsAAG	XP_011519349.1:n.2817+1148_2817+1150delin...
XM_017020319.1:c.3237+1148_3237+1150delinsAAG	XP_016875808.1:n.3237+1148_3237+1150delin...
XM_017020321.1:c.1851+1148_1851+1150delinsAAG	XP_016875810.1:n.1851+1148_1851+1150delin...
NM_001301829.2:c.3225+1148_3225+1150delinsAAG	NP_001288758.1:n.3225+1148_3225+1150delin...
NM_005845.5:c.3366+1148_3366+1150delinsAAG MANE Select	NP_005836.2:n.3366+1148_3366+1150delinsAA...