Canonical Allele Identifier: CA2545073892

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061601_95061602insCT , CM000675.2:g.95061601_95061602insCT	GRCh38
NC_000013.10:g.95713855_95713856insCT , CM000675.1:g.95713855_95713856insCT	GRCh37
NC_000013.9:g.94511856_94511857insCT	NCBI36
NG_050651.1:g.244846_244847insGA
NG_050651.2:g.244846_244847insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1103_*991+1104insGA	ENSP00000495513.1:n.*991+1103_*991+1104insGA
ENST00000643842.1:c.*3412+1103_*3412+1104insGA	ENSP00000493861.1:n.*3412+1103_*3412+1104insGA
ENST00000645237.2:c.3366+1103_3366+1104insGA MANE Select	ENSP00000494609.1:n.3366+1103_3366+1104insGA
ENST00000646439.1:c.3225+1103_3225+1104insGA	ENSP00000494751.1:n.3225+1103_3225+1104insGA
ENST00000376887.8:c.3366+1103_3366+1104insGA	ENSP00000366084.4:n.3366+1103_3366+1104insGA
NM_001301829.1:c.3225+1103_3225+1104insGA	NP_001288758.1:n.3225+1103_3225+1104insGA
NM_005845.4:c.3366+1103_3366+1104insGA	NP_005836.2:n.3366+1103_3366+1104insGA
XM_005254025.2:c.3237+1103_3237+1104insGA	XP_005254082.1:n.3237+1103_3237+1104insGA
XM_006719914.1:c.3276+1103_3276+1104insGA	XP_006719977.1:n.3276+1103_3276+1104insGA
XM_011521047.1:c.2817+1103_2817+1104insGA	XP_011519349.1:n.2817+1103_2817+1104insGA
XM_017020319.1:c.3237+1103_3237+1104insGA	XP_016875808.1:n.3237+1103_3237+1104insGA
XM_017020321.1:c.1851+1103_1851+1104insGA	XP_016875810.1:n.1851+1103_1851+1104insGA
NM_001301829.2:c.3225+1103_3225+1104insGA	NP_001288758.1:n.3225+1103_3225+1104insGA
NM_005845.5:c.3366+1103_3366+1104insGA MANE Select	NP_005836.2:n.3366+1103_3366+1104insGA