Canonical Allele Identifier: CA2112112916

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95171206_95171209delinsACTT , CM000675.2:g.95171206_95171209delinsACTT	GRCh38
NC_000013.10:g.95823460_95823463delinsACTT , CM000675.1:g.95823460_95823463delinsACTT	GRCh37
NC_000013.9:g.94621461_94621464delinsACTT	NCBI36
NG_050651.1:g.135238_135241delinsAAGT
NG_050651.2:g.135238_135241delinsAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1761-581_*1761-578delinsAAGT	ENSP00000493766.1:n.*1761-581_*1761-578delinsAAGT
ENST00000643051.1:c.1728-581_1728-578delinsAAGT	ENSP00000495513.1:n.1728-581_1728-578delinsAAGT
ENST00000643556.1:c.1869-581_1869-578delinsAAGT	ENSP00000494938.1:n.1869-581_1869-578delinsAAGT
ENST00000643816.1:n.2011-581_2011-578delinsAAGT
ENST00000643842.1:c.*1774-581_*1774-578delinsAAGT	ENSP00000493861.1:n.*1774-581_*1774-578delinsAAGT
ENST00000644471.1:n.1819-581_1819-578delinsAAGT
ENST00000645237.2:c.1728-581_1728-578delinsAAGT MANE Select	ENSP00000494609.1:n.1728-581_1728-578delinsAAGT
ENST00000645532.1:c.1767-581_1767-578delinsAAGT	ENSP00000494431.1:n.1767-581_1767-578delinsAAGT
ENST00000646439.1:c.1728-581_1728-578delinsAAGT	ENSP00000494751.1:n.1728-581_1728-578delinsAAGT
ENST00000376887.8:c.1728-581_1728-578delinsAAGT	ENSP00000366084.4:n.1728-581_1728-578delinsAAGT
ENST00000536256.3:c.1503-581_1503-578delinsAAGT	ENSP00000442024.1:n.1503-581_1503-578delinsAAGT
ENST00000629385.1:c.1728-581_1728-578delinsAAGT	ENSP00000487081.1:n.1728-581_1728-578delinsAAGT
NM_001105515.2:c.1728-581_1728-578delinsAAGT	NP_001098985.1:n.1728-581_1728-578delinsAAGT
NM_001301829.1:c.1728-581_1728-578delinsAAGT	NP_001288758.1:n.1728-581_1728-578delinsAAGT
NM_001301830.1:c.1503-581_1503-578delinsAAGT	NP_001288759.1:n.1503-581_1503-578delinsAAGT
NM_005845.4:c.1728-581_1728-578delinsAAGT	NP_005836.2:n.1728-581_1728-578delinsAAGT
XM_005254025.2:c.1599-581_1599-578delinsAAGT	XP_005254082.1:n.1599-581_1599-578delinsAAGT
XM_006719914.1:c.1638-581_1638-578delinsAAGT	XP_006719977.1:n.1638-581_1638-578delinsAAGT
XM_011521047.1:c.1179-581_1179-578delinsAAGT	XP_011519349.1:n.1179-581_1179-578delinsAAGT
XM_017020319.1:c.1599-581_1599-578delinsAAGT	XP_016875808.1:n.1599-581_1599-578delinsAAGT
XM_017020320.2:c.1728-581_1728-578delinsAAGT	XP_016875809.1:n.1728-581_1728-578delinsAAGT
XM_017020321.1:c.213-581_213-578delinsAAGT	XP_016875810.1:n.213-581_213-578delinsAAGT
XM_017020322.1:c.1599-581_1599-578delinsAAGT	XP_016875811.1:n.1599-581_1599-578delinsAAGT
NM_001105515.3:c.1728-581_1728-578delinsAAGT	NP_001098985.1:n.1728-581_1728-578delinsAAGT
NM_001301829.2:c.1728-581_1728-578delinsAAGT	NP_001288758.1:n.1728-581_1728-578delinsAAGT
NM_001301830.2:c.1503-581_1503-578delinsAAGT	NP_001288759.1:n.1503-581_1503-578delinsAAGT
NM_005845.5:c.1728-581_1728-578delinsAAGT MANE Select	NP_005836.2:n.1728-581_1728-578delinsAAGT