Canonical Allele Identifier: CA959091121

Gene: ABCC4

Linked Data

• gnomAD v3: 13-95061256-A-AGAAAGAATTAAAAGCGGAATTCTTTCTGGAAGTGGAACTGCTGGATCACG
• gnomAD v4: 13-95061256-A-AGAAAGAATTAAAAGCGGAATTCTTTCTGGAAGTGGAACTGCTGGATCACG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061256_95061257insGAAAGAATTAAAAGCGGAATTCTTTCTGGAAGTGGAACTGCTGGATCACG , CM000675.2:g.95061256_95061257insGAAAGAATTAAAAGCGGAATTCTTTCTGGAAGTGGAACTGCTGGATCACG	GRCh38
NC_000013.10:g.95713510_95713511insGAAAGAATTAAAAGCGGAATTCTTTCTGGAAGTGGAACTGCTGGATCACG , CM000675.1:g.95713510_95713511insGAAAGAATTAAAAGCGGAATTCTTTCTGGAAGTGGAACTGCTGGATCACG	GRCh37
NC_000013.9:g.94511511_94511512insGAAAGAATTAAAAGCGGAATTCTTTCTGGAAGTGGAACTGCTGGATCACG	NCBI36
NG_050651.1:g.245190_245191insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC
NG_050651.2:g.245190_245191insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000643051.1:c.*991+1447_*991+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	ENSP00000495513.1:n.*991+1447_*991+1448insCGTGATCCAGCAGTTCCAC...
ENST00000643842.1:c.*3412+1447_*3412+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	ENSP00000493861.1:n.*3412+1447_*3412+1448insCGTGATCCAGCAGTTCC...
ENST00000645237.2:c.3366+1447_3366+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC MANE Select	ENSP00000494609.1:n.3366+1447_3366+1448insCGTGATCCAGCAGTTCCAC...
ENST00000646439.1:c.3225+1447_3225+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	ENSP00000494751.1:n.3225+1447_3225+1448insCGTGATCCAGCAGTTCCAC...
ENST00000376887.8:c.3366+1447_3366+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	ENSP00000366084.4:n.3366+1447_3366+1448insCGTGATCCAGCAGTTCCAC...
NM_001301829.1:c.3225+1447_3225+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	NP_001288758.1:n.3225+1447_3225+1448insCGTGATCCAGCAGTTCCACTTC...
NM_005845.4:c.3366+1447_3366+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	NP_005836.2:n.3366+1447_3366+1448insCGTGATCCAGCAGTTCCACTTCCAG...
XM_005254025.2:c.3237+1447_3237+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	XP_005254082.1:n.3237+1447_3237+1448insCGTGATCCAGCAGTTCCACTTC...
XM_006719914.1:c.3276+1447_3276+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	XP_006719977.1:n.3276+1447_3276+1448insCGTGATCCAGCAGTTCCACTTC...
XM_011521047.1:c.2817+1447_2817+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	XP_011519349.1:n.2817+1447_2817+1448insCGTGATCCAGCAGTTCCACTTC...
XM_017020319.1:c.3237+1447_3237+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	XP_016875808.1:n.3237+1447_3237+1448insCGTGATCCAGCAGTTCCACTTC...
XM_017020321.1:c.1851+1447_1851+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	XP_016875810.1:n.1851+1447_1851+1448insCGTGATCCAGCAGTTCCACTTC...
NM_001301829.2:c.3225+1447_3225+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC	NP_001288758.1:n.3225+1447_3225+1448insCGTGATCCAGCAGTTCCACTTC...
NM_005845.5:c.3366+1447_3366+1448insCGTGATCCAGCAGTTCCACTTCCAGAAAGAATTCCGCTTTTAATTCTTTC MANE Select	NP_005836.2:n.3366+1447_3366+1448insCGTGATCCAGCAGTTCCACTTCCAG...