Canonical Allele Identifier: CA2112099128

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061588_95061604delinsATGTGTTTGTGTGTGTG , CM000675.2:g.95061588_95061604delinsATGTGTTTGTGTGTGTG	GRCh38
NC_000013.10:g.95713842_95713858delinsATGTGTTTGTGTGTGTG , CM000675.1:g.95713842_95713858delinsATGTGTTTGTGTGTGTG	GRCh37
NC_000013.9:g.94511843_94511859delinsATGTGTTTGTGTGTGTG	NCBI36
NG_050651.1:g.244843_244859delinsCACACACACAAACACAT
NG_050651.2:g.244843_244859delinsCACACACACAAACACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1100_*991+1116delinsCACACACACAAACACAT	ENSP00000495513.1:n.*991+1100_*991+1116delinsCACACACACAAACACA...
ENST00000643842.1:c.*3412+1100_*3412+1116delinsCACACACACAAACACAT	ENSP00000493861.1:n.*3412+1100_*3412+1116delinsCACACACACAAACA...
ENST00000645237.2:c.3366+1100_3366+1116delinsCACACACACAAACACAT MANE Select	ENSP00000494609.1:n.3366+1100_3366+1116delinsCACACACACAAACACA...
ENST00000646439.1:c.3225+1100_3225+1116delinsCACACACACAAACACAT	ENSP00000494751.1:n.3225+1100_3225+1116delinsCACACACACAAACACA...
ENST00000376887.8:c.3366+1100_3366+1116delinsCACACACACAAACACAT	ENSP00000366084.4:n.3366+1100_3366+1116delinsCACACACACAAACACA...
NM_001301829.1:c.3225+1100_3225+1116delinsCACACACACAAACACAT	NP_001288758.1:n.3225+1100_3225+1116delinsCACACACACAAACACAT
NM_005845.4:c.3366+1100_3366+1116delinsCACACACACAAACACAT	NP_005836.2:n.3366+1100_3366+1116delinsCACACACACAAACACAT
XM_005254025.2:c.3237+1100_3237+1116delinsCACACACACAAACACAT	XP_005254082.1:n.3237+1100_3237+1116delinsCACACACACAAACACAT
XM_006719914.1:c.3276+1100_3276+1116delinsCACACACACAAACACAT	XP_006719977.1:n.3276+1100_3276+1116delinsCACACACACAAACACAT
XM_011521047.1:c.2817+1100_2817+1116delinsCACACACACAAACACAT	XP_011519349.1:n.2817+1100_2817+1116delinsCACACACACAAACACAT
XM_017020319.1:c.3237+1100_3237+1116delinsCACACACACAAACACAT	XP_016875808.1:n.3237+1100_3237+1116delinsCACACACACAAACACAT
XM_017020321.1:c.1851+1100_1851+1116delinsCACACACACAAACACAT	XP_016875810.1:n.1851+1100_1851+1116delinsCACACACACAAACACAT
NM_001301829.2:c.3225+1100_3225+1116delinsCACACACACAAACACAT	NP_001288758.1:n.3225+1100_3225+1116delinsCACACACACAAACACAT
NM_005845.5:c.3366+1100_3366+1116delinsCACACACACAAACACAT MANE Select	NP_005836.2:n.3366+1100_3366+1116delinsCACACACACAAACACAT