Canonical Allele Identifier: CA843379317

Gene: ABCB4

Linked Data

• dbSNP Id: rs1484343732
• MyVariant Identifiers: chr7:g.87069009_87069013del (hg19) ; chr7:g.87439693_87439697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87439696_87439700del , CM000669.2:g.87439696_87439700del	GRCh38
NC_000007.13:g.87069012_87069016del , CM000669.1:g.87069012_87069016del	GRCh37
NC_000007.12:g.86906948_86906952del	NCBI36
NG_007118.1:g.45736_45740del
NG_007118.2:g.45736_45740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1701_1705del	ENSP00000352135.3:p.Glu568Ter
ENST00000643670.1:c.1717_1721del	ENSP00000496629.1:n.1717_1721del
ENST00000644106.1:c.*1238_*1242del	ENSP00000493477.1:n.*1238_*1242del
ENST00000649586.2:c.1701_1705del MANE Select	ENSP00000496956.2:p.Glu568Ter
ENST00000265723.8:c.1701_1705del	ENSP00000265723.4:p.Glu568Ter
ENST00000358400.7:c.1701_1705del	ENSP00000351172.3:p.Glu568Ter
ENST00000359206.7:c.1701_1705del	ENSP00000352135.3:p.Glu568Ter
ENST00000453593.5:c.1701_1705del	ENSP00000392983.1:p.Glu568Ter
NM_000443.3:c.1701_1705del	NP_000434.1:p.Glu568Ter
NM_018849.2:c.1701_1705del	NP_061337.1:p.Glu568Ter
NM_018850.2:c.1701_1705del	NP_061338.1:p.Glu568Ter
XM_011516308.1:c.1701_1705del	XP_011514610.1:p.Glu568Ter
XM_011516309.1:c.1701_1705del	XP_011514611.1:p.Glu568Ter
XM_011516310.1:c.1701_1705del	XP_011514612.1:p.Glu568Ter
XM_011516311.1:c.1701_1705del	XP_011514613.1:p.Glu568Ter
XM_011516312.1:c.1701_1705del	XP_011514614.1:p.Glu568Ter
XM_011516313.1:c.1701_1705del	XP_011514615.1:p.Glu568Ter
XM_011516314.1:c.1722_1726del	XP_011514616.1:p.Glu575Ter
XM_011516315.1:c.1041_1045del	XP_011514617.1:p.Glu348Ter
XR_927478.1:n.1797_1801del
XM_011516308.3:c.1971_1975del	XP_011514610.3:p.Glu658Ter
XM_011516309.3:c.1971_1975del	XP_011514611.3:p.Glu658Ter
XM_011516310.3:c.1971_1975del	XP_011514612.3:p.Glu658Ter
XM_011516311.3:c.1971_1975del	XP_011514613.3:p.Glu658Ter
XM_011516312.3:c.1971_1975del	XP_011514614.3:p.Glu658Ter
XM_011516313.3:c.1971_1975del	XP_011514615.2:p.Glu658Ter
XM_011516315.3:c.1041_1045del	XP_011514617.2:p.Glu348Ter
XM_017012323.2:c.1701_1705del	XP_016867812.1:p.Glu568Ter
XR_001744809.2:n.2472_2476del
XR_001744810.2:n.2467_2471del
NM_000443.4:c.1701_1705del MANE Select	NP_000434.1:p.Glu568Ter
NM_018849.3:c.1701_1705del	NP_061337.1:p.Glu568Ter
NM_018850.3:c.1701_1705del	NP_061338.1:p.Glu568Ter