Canonical Allele Identifier: CA2112112896

Gene: ABCC4

Linked Data

• dbSNP Id: rs2037461536

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95171183_95171185del , CM000675.2:g.95171183_95171185del	GRCh38
NC_000013.10:g.95823437_95823439del , CM000675.1:g.95823437_95823439del	GRCh37
NC_000013.9:g.94621438_94621440del	NCBI36
NG_050651.1:g.135264_135266del
NG_050651.2:g.135264_135266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1761-555_*1761-553del	ENSP00000493766.1:n.*1761-555_*1761-553del
ENST00000643051.1:c.1728-555_1728-553del	ENSP00000495513.1:n.1728-555_1728-553del
ENST00000643556.1:c.1869-555_1869-553del	ENSP00000494938.1:n.1869-555_1869-553del
ENST00000643816.1:n.2011-555_2011-553del
ENST00000643842.1:c.*1774-555_*1774-553del	ENSP00000493861.1:n.*1774-555_*1774-553del
ENST00000644471.1:n.1819-555_1819-553del
ENST00000645237.2:c.1728-555_1728-553del MANE Select	ENSP00000494609.1:n.1728-555_1728-553del
ENST00000645532.1:c.1767-555_1767-553del	ENSP00000494431.1:n.1767-555_1767-553del
ENST00000646439.1:c.1728-555_1728-553del	ENSP00000494751.1:n.1728-555_1728-553del
ENST00000376887.8:c.1728-555_1728-553del	ENSP00000366084.4:n.1728-555_1728-553del
ENST00000536256.3:c.1503-555_1503-553del	ENSP00000442024.1:n.1503-555_1503-553del
ENST00000629385.1:c.1728-555_1728-553del	ENSP00000487081.1:n.1728-555_1728-553del
NM_001105515.2:c.1728-555_1728-553del	NP_001098985.1:n.1728-555_1728-553del
NM_001301829.1:c.1728-555_1728-553del	NP_001288758.1:n.1728-555_1728-553del
NM_001301830.1:c.1503-555_1503-553del	NP_001288759.1:n.1503-555_1503-553del
NM_005845.4:c.1728-555_1728-553del	NP_005836.2:n.1728-555_1728-553del
XM_005254025.2:c.1599-555_1599-553del	XP_005254082.1:n.1599-555_1599-553del
XM_006719914.1:c.1638-555_1638-553del	XP_006719977.1:n.1638-555_1638-553del
XM_011521047.1:c.1179-555_1179-553del	XP_011519349.1:n.1179-555_1179-553del
XM_017020319.1:c.1599-555_1599-553del	XP_016875808.1:n.1599-555_1599-553del
XM_017020320.2:c.1728-555_1728-553del	XP_016875809.1:n.1728-555_1728-553del
XM_017020321.1:c.213-555_213-553del	XP_016875810.1:n.213-555_213-553del
XM_017020322.1:c.1599-555_1599-553del	XP_016875811.1:n.1599-555_1599-553del
NM_001105515.3:c.1728-555_1728-553del	NP_001098985.1:n.1728-555_1728-553del
NM_001301829.2:c.1728-555_1728-553del	NP_001288758.1:n.1728-555_1728-553del
NM_001301830.2:c.1503-555_1503-553del	NP_001288759.1:n.1503-555_1503-553del
NM_005845.5:c.1728-555_1728-553del MANE Select	NP_005836.2:n.1728-555_1728-553del