Canonical Allele Identifier: CA2112146394

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186606_95186607delinsTA , CM000675.2:g.95186606_95186607delinsTA	GRCh38
NC_000013.10:g.95838860_95838861delinsTA , CM000675.1:g.95838860_95838861delinsTA	GRCh37
NC_000013.9:g.94636861_94636862delinsTA	NCBI36
NG_050651.1:g.119840_119841delinsTA
NG_050651.2:g.119840_119841delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1578+94_*1578+95delinsTA	ENSP00000493766.1:n.*1578+94_*1578+95delinsTA
ENST00000643051.1:c.1545+94_1545+95delinsTA	ENSP00000495513.1:n.1545+94_1545+95delinsTA
ENST00000643556.1:c.1686+94_1686+95delinsTA	ENSP00000494938.1:n.1686+94_1686+95delinsTA
ENST00000643816.1:n.1828+94_1828+95delinsTA
ENST00000643842.1:c.*1591+94_*1591+95delinsTA	ENSP00000493861.1:n.*1591+94_*1591+95delinsTA
ENST00000644471.1:n.1641+94_1641+95delinsTA
ENST00000645237.2:c.1545+94_1545+95delinsTA MANE Select	ENSP00000494609.1:n.1545+94_1545+95delinsTA
ENST00000645532.1:c.1584+94_1584+95delinsTA	ENSP00000494431.1:n.1584+94_1584+95delinsTA
ENST00000646439.1:c.1545+94_1545+95delinsTA	ENSP00000494751.1:n.1545+94_1545+95delinsTA
ENST00000376887.8:c.1545+94_1545+95delinsTA	ENSP00000366084.4:n.1545+94_1545+95delinsTA
ENST00000536256.3:c.1320+94_1320+95delinsTA	ENSP00000442024.1:n.1320+94_1320+95delinsTA
ENST00000629385.1:c.1545+94_1545+95delinsTA	ENSP00000487081.1:n.1545+94_1545+95delinsTA
NM_001105515.2:c.1545+94_1545+95delinsTA	NP_001098985.1:n.1545+94_1545+95delinsTA
NM_001301829.1:c.1545+94_1545+95delinsTA	NP_001288758.1:n.1545+94_1545+95delinsTA
NM_001301830.1:c.1320+94_1320+95delinsTA	NP_001288759.1:n.1320+94_1320+95delinsTA
NM_005845.4:c.1545+94_1545+95delinsTA	NP_005836.2:n.1545+94_1545+95delinsTA
XM_005254025.2:c.1416+94_1416+95delinsTA	XP_005254082.1:n.1416+94_1416+95delinsTA
XM_006719914.1:c.1455+94_1455+95delinsTA	XP_006719977.1:n.1455+94_1455+95delinsTA
XM_011521047.1:c.996+94_996+95delinsTA	XP_011519349.1:n.996+94_996+95delinsTA
XM_017020319.1:c.1416+94_1416+95delinsTA	XP_016875808.1:n.1416+94_1416+95delinsTA
XM_017020320.2:c.1545+94_1545+95delinsTA	XP_016875809.1:n.1545+94_1545+95delinsTA
XM_017020321.1:c.-1098_-1097delinsTA	XP_016875810.1:n.-1098_-1097delinsTA
XM_017020322.1:c.1416+94_1416+95delinsTA	XP_016875811.1:n.1416+94_1416+95delinsTA
NM_001105515.3:c.1545+94_1545+95delinsTA	NP_001098985.1:n.1545+94_1545+95delinsTA
NM_001301829.2:c.1545+94_1545+95delinsTA	NP_001288758.1:n.1545+94_1545+95delinsTA
NM_001301830.2:c.1320+94_1320+95delinsTA	NP_001288759.1:n.1320+94_1320+95delinsTA
NM_005845.5:c.1545+94_1545+95delinsTA MANE Select	NP_005836.2:n.1545+94_1545+95delinsTA