Canonical Allele Identifier: CA2112099139

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061594_95061620delinsTTGTGTGTGTGTGTGTGTGTGTGTGTG , CM000675.2:g.95061594_95061620delinsTTGTGTGTGTGTGTGTGTGTGTGTGTG	GRCh38
NC_000013.10:g.95713848_95713874delinsTTGTGTGTGTGTGTGTGTGTGTGTGTG , CM000675.1:g.95713848_95713874delinsTTGTGTGTGTGTGTGTGTGTGTGTGTG	GRCh37
NC_000013.9:g.94511849_94511875delinsTTGTGTGTGTGTGTGTGTGTGTGTGTG	NCBI36
NG_050651.1:g.244827_244853delinsCACACACACACACACACACACACACAA
NG_050651.2:g.244827_244853delinsCACACACACACACACACACACACACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1084_*991+1110delinsCACACACACACACACACACACACACAA	ENSP00000495513.1:n.*991+1084_*991+1110delinsCACACACACACACACA...
ENST00000643842.1:c.*3412+1084_*3412+1110delinsCACACACACACACACACACACACACAA	ENSP00000493861.1:n.*3412+1084_*3412+1110delinsCACACACACACACA...
ENST00000645237.2:c.3366+1084_3366+1110delinsCACACACACACACACACACACACACAA MANE Select	ENSP00000494609.1:n.3366+1084_3366+1110delinsCACACACACACACACA...
ENST00000646439.1:c.3225+1084_3225+1110delinsCACACACACACACACACACACACACAA	ENSP00000494751.1:n.3225+1084_3225+1110delinsCACACACACACACACA...
ENST00000376887.8:c.3366+1084_3366+1110delinsCACACACACACACACACACACACACAA	ENSP00000366084.4:n.3366+1084_3366+1110delinsCACACACACACACACA...
NM_001301829.1:c.3225+1084_3225+1110delinsCACACACACACACACACACACACACAA	NP_001288758.1:n.3225+1084_3225+1110delinsCACACACACACACACACAC...
NM_005845.4:c.3366+1084_3366+1110delinsCACACACACACACACACACACACACAA	NP_005836.2:n.3366+1084_3366+1110delinsCACACACACACACACACACACA...
XM_005254025.2:c.3237+1084_3237+1110delinsCACACACACACACACACACACACACAA	XP_005254082.1:n.3237+1084_3237+1110delinsCACACACACACACACACAC...
XM_006719914.1:c.3276+1084_3276+1110delinsCACACACACACACACACACACACACAA	XP_006719977.1:n.3276+1084_3276+1110delinsCACACACACACACACACAC...
XM_011521047.1:c.2817+1084_2817+1110delinsCACACACACACACACACACACACACAA	XP_011519349.1:n.2817+1084_2817+1110delinsCACACACACACACACACAC...
XM_017020319.1:c.3237+1084_3237+1110delinsCACACACACACACACACACACACACAA	XP_016875808.1:n.3237+1084_3237+1110delinsCACACACACACACACACAC...
XM_017020321.1:c.1851+1084_1851+1110delinsCACACACACACACACACACACACACAA	XP_016875810.1:n.1851+1084_1851+1110delinsCACACACACACACACACAC...
NM_001301829.2:c.3225+1084_3225+1110delinsCACACACACACACACACACACACACAA	NP_001288758.1:n.3225+1084_3225+1110delinsCACACACACACACACACAC...
NM_005845.5:c.3366+1084_3366+1110delinsCACACACACACACACACACACACACAA MANE Select	NP_005836.2:n.3366+1084_3366+1110delinsCACACACACACACACACACACA...