Canonical Allele Identifier: CA2112112329

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170668_95170669delinsTG , CM000675.2:g.95170668_95170669delinsTG	GRCh38
NC_000013.10:g.95822922_95822923delinsTG , CM000675.1:g.95822922_95822923delinsTG	GRCh37
NC_000013.9:g.94620923_94620924delinsTG	NCBI36
NG_050651.1:g.135778_135779delinsCA
NG_050651.2:g.135778_135779delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1761-41_*1761-40delinsCA	ENSP00000493766.1:n.*1761-41_*1761-40delinsCA
ENST00000643051.1:c.1728-41_1728-40delinsCA	ENSP00000495513.1:n.1728-41_1728-40delinsCA
ENST00000643556.1:c.1869-41_1869-40delinsCA	ENSP00000494938.1:n.1869-41_1869-40delinsCA
ENST00000643816.1:n.2011-41_2011-40delinsCA
ENST00000643842.1:c.*1774-41_*1774-40delinsCA	ENSP00000493861.1:n.*1774-41_*1774-40delinsCA
ENST00000644471.1:n.1819-41_1819-40delinsCA
ENST00000645237.2:c.1728-41_1728-40delinsCA MANE Select	ENSP00000494609.1:n.1728-41_1728-40delinsCA
ENST00000645532.1:c.1767-41_1767-40delinsCA	ENSP00000494431.1:n.1767-41_1767-40delinsCA
ENST00000646439.1:c.1728-41_1728-40delinsCA	ENSP00000494751.1:n.1728-41_1728-40delinsCA
ENST00000376887.8:c.1728-41_1728-40delinsCA	ENSP00000366084.4:n.1728-41_1728-40delinsCA
ENST00000536256.3:c.1503-41_1503-40delinsCA	ENSP00000442024.1:n.1503-41_1503-40delinsCA
ENST00000629385.1:c.1728-41_1728-40delinsCA	ENSP00000487081.1:n.1728-41_1728-40delinsCA
NM_001105515.2:c.1728-41_1728-40delinsCA	NP_001098985.1:n.1728-41_1728-40delinsCA
NM_001301829.1:c.1728-41_1728-40delinsCA	NP_001288758.1:n.1728-41_1728-40delinsCA
NM_001301830.1:c.1503-41_1503-40delinsCA	NP_001288759.1:n.1503-41_1503-40delinsCA
NM_005845.4:c.1728-41_1728-40delinsCA	NP_005836.2:n.1728-41_1728-40delinsCA
XM_005254025.2:c.1599-41_1599-40delinsCA	XP_005254082.1:n.1599-41_1599-40delinsCA
XM_006719914.1:c.1638-41_1638-40delinsCA	XP_006719977.1:n.1638-41_1638-40delinsCA
XM_011521047.1:c.1179-41_1179-40delinsCA	XP_011519349.1:n.1179-41_1179-40delinsCA
XM_017020319.1:c.1599-41_1599-40delinsCA	XP_016875808.1:n.1599-41_1599-40delinsCA
XM_017020320.2:c.1728-41_1728-40delinsCA	XP_016875809.1:n.1728-41_1728-40delinsCA
XM_017020321.1:c.213-41_213-40delinsCA	XP_016875810.1:n.213-41_213-40delinsCA
XM_017020322.1:c.1599-41_1599-40delinsCA	XP_016875811.1:n.1599-41_1599-40delinsCA
NM_001105515.3:c.1728-41_1728-40delinsCA	NP_001098985.1:n.1728-41_1728-40delinsCA
NM_001301829.2:c.1728-41_1728-40delinsCA	NP_001288758.1:n.1728-41_1728-40delinsCA
NM_001301830.2:c.1503-41_1503-40delinsCA	NP_001288759.1:n.1503-41_1503-40delinsCA
NM_005845.5:c.1728-41_1728-40delinsCA MANE Select	NP_005836.2:n.1728-41_1728-40delinsCA