Canonical Allele Identifier: CA611421802

Gene: ABCC4

Linked Data

• dbSNP Id: rs1358290535
• gnomAD v2: 13-95713847-T-TG
• gnomAD v3: 13-95061593-T-TG
• gnomAD v4: 13-95061593-T-TG
• MyVariant Identifiers: chr13:g.95713847_95713848insG (hg19) ; chr13:g.95061593_95061594insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061593_95061594insG , CM000675.2:g.95061593_95061594insG	GRCh38
NC_000013.10:g.95713847_95713848insG , CM000675.1:g.95713847_95713848insG	GRCh37
NC_000013.9:g.94511848_94511849insG	NCBI36
NG_050651.1:g.244853_244854insC
NG_050651.2:g.244853_244854insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1110_*991+1111insC	ENSP00000495513.1:n.*991+1110_*991+1111insC
ENST00000643842.1:c.*3412+1110_*3412+1111insC	ENSP00000493861.1:n.*3412+1110_*3412+1111insC
ENST00000645237.2:c.3366+1110_3366+1111insC MANE Select	ENSP00000494609.1:n.3366+1110_3366+1111insC
ENST00000646439.1:c.3225+1110_3225+1111insC	ENSP00000494751.1:n.3225+1110_3225+1111insC
ENST00000376887.8:c.3366+1110_3366+1111insC	ENSP00000366084.4:n.3366+1110_3366+1111insC
NM_001301829.1:c.3225+1110_3225+1111insC	NP_001288758.1:n.3225+1110_3225+1111insC
NM_005845.4:c.3366+1110_3366+1111insC	NP_005836.2:n.3366+1110_3366+1111insC
XM_005254025.2:c.3237+1110_3237+1111insC	XP_005254082.1:n.3237+1110_3237+1111insC
XM_006719914.1:c.3276+1110_3276+1111insC	XP_006719977.1:n.3276+1110_3276+1111insC
XM_011521047.1:c.2817+1110_2817+1111insC	XP_011519349.1:n.2817+1110_2817+1111insC
XM_017020319.1:c.3237+1110_3237+1111insC	XP_016875808.1:n.3237+1110_3237+1111insC
XM_017020321.1:c.1851+1110_1851+1111insC	XP_016875810.1:n.1851+1110_1851+1111insC
NM_001301829.2:c.3225+1110_3225+1111insC	NP_001288758.1:n.3225+1110_3225+1111insC
NM_005845.5:c.3366+1110_3366+1111insC MANE Select	NP_005836.2:n.3366+1110_3366+1111insC