Canonical Allele Identifier: CA2112099134

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061592_95061594delinsGTT , CM000675.2:g.95061592_95061594delinsGTT	GRCh38
NC_000013.10:g.95713846_95713848delinsGTT , CM000675.1:g.95713846_95713848delinsGTT	GRCh37
NC_000013.9:g.94511847_94511849delinsGTT	NCBI36
NG_050651.1:g.244853_244855delinsAAC
NG_050651.2:g.244853_244855delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1110_*991+1112delinsAAC	ENSP00000495513.1:n.*991+1110_*991+1112delinsAAC
ENST00000643842.1:c.*3412+1110_*3412+1112delinsAAC	ENSP00000493861.1:n.*3412+1110_*3412+1112delinsAAC
ENST00000645237.2:c.3366+1110_3366+1112delinsAAC MANE Select	ENSP00000494609.1:n.3366+1110_3366+1112delinsAAC
ENST00000646439.1:c.3225+1110_3225+1112delinsAAC	ENSP00000494751.1:n.3225+1110_3225+1112delinsAAC
ENST00000376887.8:c.3366+1110_3366+1112delinsAAC	ENSP00000366084.4:n.3366+1110_3366+1112delinsAAC
NM_001301829.1:c.3225+1110_3225+1112delinsAAC	NP_001288758.1:n.3225+1110_3225+1112delinsAAC
NM_005845.4:c.3366+1110_3366+1112delinsAAC	NP_005836.2:n.3366+1110_3366+1112delinsAAC
XM_005254025.2:c.3237+1110_3237+1112delinsAAC	XP_005254082.1:n.3237+1110_3237+1112delinsAAC
XM_006719914.1:c.3276+1110_3276+1112delinsAAC	XP_006719977.1:n.3276+1110_3276+1112delinsAAC
XM_011521047.1:c.2817+1110_2817+1112delinsAAC	XP_011519349.1:n.2817+1110_2817+1112delinsAAC
XM_017020319.1:c.3237+1110_3237+1112delinsAAC	XP_016875808.1:n.3237+1110_3237+1112delinsAAC
XM_017020321.1:c.1851+1110_1851+1112delinsAAC	XP_016875810.1:n.1851+1110_1851+1112delinsAAC
NM_001301829.2:c.3225+1110_3225+1112delinsAAC	NP_001288758.1:n.3225+1110_3225+1112delinsAAC
NM_005845.5:c.3366+1110_3366+1112delinsAAC MANE Select	NP_005836.2:n.3366+1110_3366+1112delinsAAC