Canonical Allele Identifier: CA2112099124

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061588_95061602delinsATGTGTTTGTGTGTG , CM000675.2:g.95061588_95061602delinsATGTGTTTGTGTGTG	GRCh38
NC_000013.10:g.95713842_95713856delinsATGTGTTTGTGTGTG , CM000675.1:g.95713842_95713856delinsATGTGTTTGTGTGTG	GRCh37
NC_000013.9:g.94511843_94511857delinsATGTGTTTGTGTGTG	NCBI36
NG_050651.1:g.244845_244859delinsCACACACAAACACAT
NG_050651.2:g.244845_244859delinsCACACACAAACACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1102_*991+1116delinsCACACACAAACACAT	ENSP00000495513.1:n.*991+1102_*991+1116delinsCACACACAAACACAT
ENST00000643842.1:c.*3412+1102_*3412+1116delinsCACACACAAACACAT	ENSP00000493861.1:n.*3412+1102_*3412+1116delinsCACACACAAACACA...
ENST00000645237.2:c.3366+1102_3366+1116delinsCACACACAAACACAT MANE Select	ENSP00000494609.1:n.3366+1102_3366+1116delinsCACACACAAACACAT
ENST00000646439.1:c.3225+1102_3225+1116delinsCACACACAAACACAT	ENSP00000494751.1:n.3225+1102_3225+1116delinsCACACACAAACACAT
ENST00000376887.8:c.3366+1102_3366+1116delinsCACACACAAACACAT	ENSP00000366084.4:n.3366+1102_3366+1116delinsCACACACAAACACAT
NM_001301829.1:c.3225+1102_3225+1116delinsCACACACAAACACAT	NP_001288758.1:n.3225+1102_3225+1116delinsCACACACAAACACAT
NM_005845.4:c.3366+1102_3366+1116delinsCACACACAAACACAT	NP_005836.2:n.3366+1102_3366+1116delinsCACACACAAACACAT
XM_005254025.2:c.3237+1102_3237+1116delinsCACACACAAACACAT	XP_005254082.1:n.3237+1102_3237+1116delinsCACACACAAACACAT
XM_006719914.1:c.3276+1102_3276+1116delinsCACACACAAACACAT	XP_006719977.1:n.3276+1102_3276+1116delinsCACACACAAACACAT
XM_011521047.1:c.2817+1102_2817+1116delinsCACACACAAACACAT	XP_011519349.1:n.2817+1102_2817+1116delinsCACACACAAACACAT
XM_017020319.1:c.3237+1102_3237+1116delinsCACACACAAACACAT	XP_016875808.1:n.3237+1102_3237+1116delinsCACACACAAACACAT
XM_017020321.1:c.1851+1102_1851+1116delinsCACACACAAACACAT	XP_016875810.1:n.1851+1102_1851+1116delinsCACACACAAACACAT
NM_001301829.2:c.3225+1102_3225+1116delinsCACACACAAACACAT	NP_001288758.1:n.3225+1102_3225+1116delinsCACACACAAACACAT
NM_005845.5:c.3366+1102_3366+1116delinsCACACACAAACACAT MANE Select	NP_005836.2:n.3366+1102_3366+1116delinsCACACACAAACACAT