Canonical Allele Identifier: CA2623415947

Gene: ABCC4

Linked Data

• gnomAD v4: 13-95170702-A-AACCGTAGTCAAAGACAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170705_95170722dup , CM000675.2:g.95170705_95170722dup	GRCh38
NC_000013.10:g.95822959_95822976dup , CM000675.1:g.95822959_95822976dup	GRCh37
NC_000013.9:g.94620960_94620977dup	NCBI36
NG_050651.1:g.135727_135744dup
NG_050651.2:g.135727_135744dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1761-92_*1761-75dup	ENSP00000493766.1:n.*1761-92_*1761-75dup
ENST00000643051.1:c.1728-92_1728-75dup	ENSP00000495513.1:n.1728-92_1728-75dup
ENST00000643556.1:c.1869-92_1869-75dup	ENSP00000494938.1:n.1869-92_1869-75dup
ENST00000643816.1:n.2011-92_2011-75dup
ENST00000643842.1:c.*1774-92_*1774-75dup	ENSP00000493861.1:n.*1774-92_*1774-75dup
ENST00000644471.1:n.1819-92_1819-75dup
ENST00000645237.2:c.1728-92_1728-75dup MANE Select	ENSP00000494609.1:n.1728-92_1728-75dup
ENST00000645532.1:c.1767-92_1767-75dup	ENSP00000494431.1:n.1767-92_1767-75dup
ENST00000646439.1:c.1728-92_1728-75dup	ENSP00000494751.1:n.1728-92_1728-75dup
ENST00000376887.8:c.1728-92_1728-75dup	ENSP00000366084.4:n.1728-92_1728-75dup
ENST00000536256.3:c.1503-92_1503-75dup	ENSP00000442024.1:n.1503-92_1503-75dup
ENST00000629385.1:c.1728-92_1728-75dup	ENSP00000487081.1:n.1728-92_1728-75dup
NM_001105515.2:c.1728-92_1728-75dup	NP_001098985.1:n.1728-92_1728-75dup
NM_001301829.1:c.1728-92_1728-75dup	NP_001288758.1:n.1728-92_1728-75dup
NM_001301830.1:c.1503-92_1503-75dup	NP_001288759.1:n.1503-92_1503-75dup
NM_005845.4:c.1728-92_1728-75dup	NP_005836.2:n.1728-92_1728-75dup
XM_005254025.2:c.1599-92_1599-75dup	XP_005254082.1:n.1599-92_1599-75dup
XM_006719914.1:c.1638-92_1638-75dup	XP_006719977.1:n.1638-92_1638-75dup
XM_011521047.1:c.1179-92_1179-75dup	XP_011519349.1:n.1179-92_1179-75dup
XM_017020319.1:c.1599-92_1599-75dup	XP_016875808.1:n.1599-92_1599-75dup
XM_017020320.2:c.1728-92_1728-75dup	XP_016875809.1:n.1728-92_1728-75dup
XM_017020321.1:c.213-92_213-75dup	XP_016875810.1:n.213-92_213-75dup
XM_017020322.1:c.1599-92_1599-75dup	XP_016875811.1:n.1599-92_1599-75dup
NM_001105515.3:c.1728-92_1728-75dup	NP_001098985.1:n.1728-92_1728-75dup
NM_001301829.2:c.1728-92_1728-75dup	NP_001288758.1:n.1728-92_1728-75dup
NM_001301830.2:c.1503-92_1503-75dup	NP_001288759.1:n.1503-92_1503-75dup
NM_005845.5:c.1728-92_1728-75dup MANE Select	NP_005836.2:n.1728-92_1728-75dup