Canonical Allele Identifier: CA611421810

Gene: ABCC4

Linked Data

• dbSNP Id: rs1238261765
• gnomAD v2: 13-95713877-T-TGTGTGC
• gnomAD v3: 13-95061623-T-TGTGTGC
• gnomAD v4: 13-95061623-T-TGTGTGC
• MyVariant Identifiers: chr13:g.95713877_95713878insGTGTGC (hg19) ; chr13:g.95061623_95061624insGTGTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061628_95061629insCGTGTG , CM000675.2:g.95061628_95061629insCGTGTG	GRCh38
NC_000013.10:g.95713882_95713883insCGTGTG , CM000675.1:g.95713882_95713883insCGTGTG	GRCh37
NC_000013.9:g.94511883_94511884insCGTGTG	NCBI36
NG_050651.1:g.244823_244824insGCACAC
NG_050651.2:g.244823_244824insGCACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1080_*991+1081insGCACAC	ENSP00000495513.1:n.*991+1080_*991+1081insGCACAC
ENST00000643842.1:c.*3412+1080_*3412+1081insGCACAC	ENSP00000493861.1:n.*3412+1080_*3412+1081insGCACAC
ENST00000645237.2:c.3366+1080_3366+1081insGCACAC MANE Select	ENSP00000494609.1:n.3366+1080_3366+1081insGCACAC
ENST00000646439.1:c.3225+1080_3225+1081insGCACAC	ENSP00000494751.1:n.3225+1080_3225+1081insGCACAC
ENST00000376887.8:c.3366+1080_3366+1081insGCACAC	ENSP00000366084.4:n.3366+1080_3366+1081insGCACAC
NM_001301829.1:c.3225+1080_3225+1081insGCACAC	NP_001288758.1:n.3225+1080_3225+1081insGCACAC
NM_005845.4:c.3366+1080_3366+1081insGCACAC	NP_005836.2:n.3366+1080_3366+1081insGCACAC
XM_005254025.2:c.3237+1080_3237+1081insGCACAC	XP_005254082.1:n.3237+1080_3237+1081insGCACAC
XM_006719914.1:c.3276+1080_3276+1081insGCACAC	XP_006719977.1:n.3276+1080_3276+1081insGCACAC
XM_011521047.1:c.2817+1080_2817+1081insGCACAC	XP_011519349.1:n.2817+1080_2817+1081insGCACAC
XM_017020319.1:c.3237+1080_3237+1081insGCACAC	XP_016875808.1:n.3237+1080_3237+1081insGCACAC
XM_017020321.1:c.1851+1080_1851+1081insGCACAC	XP_016875810.1:n.1851+1080_1851+1081insGCACAC
NM_001301829.2:c.3225+1080_3225+1081insGCACAC	NP_001288758.1:n.3225+1080_3225+1081insGCACAC
NM_005845.5:c.3366+1080_3366+1081insGCACAC MANE Select	NP_005836.2:n.3366+1080_3366+1081insGCACAC