Canonical Allele Identifier: CA2728845102

Gene: ABCC4

Linked Data

• dbSNP Id: rs2139285326

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061629_95061630insATATACATAATCATTT , CM000675.2:g.95061629_95061630insATATACATAATCATTT	GRCh38
NC_000013.10:g.95713883_95713884insATATACATAATCATTT , CM000675.1:g.95713883_95713884insATATACATAATCATTT	GRCh37
NC_000013.9:g.94511884_94511885insATATACATAATCATTT	NCBI36
NG_050651.1:g.244818_244819insAATGATTATGTATATA
NG_050651.2:g.244818_244819insAATGATTATGTATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1075_*991+1076insAATGATTATGTATATA	ENSP00000495513.1:n.*991+1075_*991+1076insAATGATTATGTATATA
ENST00000643842.1:c.*3412+1075_*3412+1076insAATGATTATGTATATA	ENSP00000493861.1:n.*3412+1075_*3412+1076insAATGATTATGTATATA
ENST00000645237.2:c.3366+1075_3366+1076insAATGATTATGTATATA MANE Select	ENSP00000494609.1:n.3366+1075_3366+1076insAATGATTATGTATATA
ENST00000646439.1:c.3225+1075_3225+1076insAATGATTATGTATATA	ENSP00000494751.1:n.3225+1075_3225+1076insAATGATTATGTATATA
ENST00000376887.8:c.3366+1075_3366+1076insAATGATTATGTATATA	ENSP00000366084.4:n.3366+1075_3366+1076insAATGATTATGTATATA
NM_001301829.1:c.3225+1075_3225+1076insAATGATTATGTATATA	NP_001288758.1:n.3225+1075_3225+1076insAATGATTATGTATATA
NM_005845.4:c.3366+1075_3366+1076insAATGATTATGTATATA	NP_005836.2:n.3366+1075_3366+1076insAATGATTATGTATATA
XM_005254025.2:c.3237+1075_3237+1076insAATGATTATGTATATA	XP_005254082.1:n.3237+1075_3237+1076insAATGATTATGTATATA
XM_006719914.1:c.3276+1075_3276+1076insAATGATTATGTATATA	XP_006719977.1:n.3276+1075_3276+1076insAATGATTATGTATATA
XM_011521047.1:c.2817+1075_2817+1076insAATGATTATGTATATA	XP_011519349.1:n.2817+1075_2817+1076insAATGATTATGTATATA
XM_017020319.1:c.3237+1075_3237+1076insAATGATTATGTATATA	XP_016875808.1:n.3237+1075_3237+1076insAATGATTATGTATATA
XM_017020321.1:c.1851+1075_1851+1076insAATGATTATGTATATA	XP_016875810.1:n.1851+1075_1851+1076insAATGATTATGTATATA
NM_001301829.2:c.3225+1075_3225+1076insAATGATTATGTATATA	NP_001288758.1:n.3225+1075_3225+1076insAATGATTATGTATATA
NM_005845.5:c.3366+1075_3366+1076insAATGATTATGTATATA MANE Select	NP_005836.2:n.3366+1075_3366+1076insAATGATTATGTATATA