Canonical Allele Identifier: CA611421798

Gene: ABCC4

Linked Data

• dbSNP Id: rs1312628769
• gnomAD v2: 13-95713838-G-GAAT
• gnomAD v3: 13-95061584-G-GAAT
• gnomAD v4: 13-95061584-G-GAAT
• MyVariant Identifiers: chr13:g.95713838_95713839insAAT (hg19) ; chr13:g.95061584_95061585insAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061586_95061588dup , CM000675.2:g.95061586_95061588dup	GRCh38
NC_000013.10:g.95713840_95713842dup , CM000675.1:g.95713840_95713842dup	GRCh37
NC_000013.9:g.94511841_94511843dup	NCBI36
NG_050651.1:g.244860_244862dup
NG_050651.2:g.244860_244862dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1117_*991+1119dup	ENSP00000495513.1:n.*991+1117_*991+1119dup
ENST00000643842.1:c.*3412+1117_*3412+1119dup	ENSP00000493861.1:n.*3412+1117_*3412+1119dup
ENST00000645237.2:c.3366+1117_3366+1119dup MANE Select	ENSP00000494609.1:n.3366+1117_3366+1119dup
ENST00000646439.1:c.3225+1117_3225+1119dup	ENSP00000494751.1:n.3225+1117_3225+1119dup
ENST00000376887.8:c.3366+1117_3366+1119dup	ENSP00000366084.4:n.3366+1117_3366+1119dup
NM_001301829.1:c.3225+1117_3225+1119dup	NP_001288758.1:n.3225+1117_3225+1119dup
NM_005845.4:c.3366+1117_3366+1119dup	NP_005836.2:n.3366+1117_3366+1119dup
XM_005254025.2:c.3237+1117_3237+1119dup	XP_005254082.1:n.3237+1117_3237+1119dup
XM_006719914.1:c.3276+1117_3276+1119dup	XP_006719977.1:n.3276+1117_3276+1119dup
XM_011521047.1:c.2817+1117_2817+1119dup	XP_011519349.1:n.2817+1117_2817+1119dup
XM_017020319.1:c.3237+1117_3237+1119dup	XP_016875808.1:n.3237+1117_3237+1119dup
XM_017020321.1:c.1851+1117_1851+1119dup	XP_016875810.1:n.1851+1117_1851+1119dup
NM_001301829.2:c.3225+1117_3225+1119dup	NP_001288758.1:n.3225+1117_3225+1119dup
NM_005845.5:c.3366+1117_3366+1119dup MANE Select	NP_005836.2:n.3366+1117_3366+1119dup