Canonical Allele Identifier: CA959091297

Gene: ABCC4

Linked Data

• gnomAD v3: 13-95061594-T-TGTG
• gnomAD v4: 13-95061594-T-TGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061594_95061595insGTG , CM000675.2:g.95061594_95061595insGTG	GRCh38
NC_000013.10:g.95713848_95713849insGTG , CM000675.1:g.95713848_95713849insGTG	GRCh37
NC_000013.9:g.94511849_94511850insGTG	NCBI36
NG_050651.1:g.244852_244853insCAC
NG_050651.2:g.244852_244853insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1109_*991+1110insCAC	ENSP00000495513.1:n.*991+1109_*991+1110insCAC
ENST00000643842.1:c.*3412+1109_*3412+1110insCAC	ENSP00000493861.1:n.*3412+1109_*3412+1110insCAC
ENST00000645237.2:c.3366+1109_3366+1110insCAC MANE Select	ENSP00000494609.1:n.3366+1109_3366+1110insCAC
ENST00000646439.1:c.3225+1109_3225+1110insCAC	ENSP00000494751.1:n.3225+1109_3225+1110insCAC
ENST00000376887.8:c.3366+1109_3366+1110insCAC	ENSP00000366084.4:n.3366+1109_3366+1110insCAC
NM_001301829.1:c.3225+1109_3225+1110insCAC	NP_001288758.1:n.3225+1109_3225+1110insCAC
NM_005845.4:c.3366+1109_3366+1110insCAC	NP_005836.2:n.3366+1109_3366+1110insCAC
XM_005254025.2:c.3237+1109_3237+1110insCAC	XP_005254082.1:n.3237+1109_3237+1110insCAC
XM_006719914.1:c.3276+1109_3276+1110insCAC	XP_006719977.1:n.3276+1109_3276+1110insCAC
XM_011521047.1:c.2817+1109_2817+1110insCAC	XP_011519349.1:n.2817+1109_2817+1110insCAC
XM_017020319.1:c.3237+1109_3237+1110insCAC	XP_016875808.1:n.3237+1109_3237+1110insCAC
XM_017020321.1:c.1851+1109_1851+1110insCAC	XP_016875810.1:n.1851+1109_1851+1110insCAC
NM_001301829.2:c.3225+1109_3225+1110insCAC	NP_001288758.1:n.3225+1109_3225+1110insCAC
NM_005845.5:c.3366+1109_3366+1110insCAC MANE Select	NP_005836.2:n.3366+1109_3366+1110insCAC