Canonical Allele Identifier: CA1723592896
Gene: ABCB4 HGNC NCBI

Linked Data

dbSNP Id: rs1810200212

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87431288_87431295del , CM000669.2:g.87431288_87431295del GRCh38
NC_000007.13:g.87060604_87060611del , CM000669.1:g.87060604_87060611del GRCh37
NC_000007.12:g.86898540_86898547del NCBI36
NG_007118.1:g.54139_54146del
NG_007118.2:g.54139_54146del

Transcript Alleles

HGVS Amino-acid change
ENST00000359206.8:c.1893+110_1893+117del ENSP00000352135.3:n.1893+110_1893+117del
ENST00000643670.1:c.1909+110_1909+117del ENSP00000496629.1:n.1909+110_1909+117del
ENST00000644106.1:c.*1430+110_*1430+117del ENSP00000493477.1:n.*1430+110_*1430+117del
ENST00000649586.2:c.1893+110_1893+117del MANE Select ENSP00000496956.2:n.1893+110_1893+117del
ENST00000265723.8:c.1893+110_1893+117del ENSP00000265723.4:n.1893+110_1893+117del
ENST00000358400.7:c.1893+110_1893+117del ENSP00000351172.3:n.1893+110_1893+117del
ENST00000359206.7:c.1893+110_1893+117del ENSP00000352135.3:n.1893+110_1893+117del
ENST00000453593.5:c.1893+110_1893+117del ENSP00000392983.1:n.1893+110_1893+117del
ENST00000469770.1:n.97+110_97+117del
NM_000443.3:c.1893+110_1893+117del NP_000434.1:n.1893+110_1893+117del
NM_018849.2:c.1893+110_1893+117del NP_061337.1:n.1893+110_1893+117del
NM_018850.2:c.1893+110_1893+117del NP_061338.1:n.1893+110_1893+117del
XM_011516308.1:c.1893+110_1893+117del XP_011514610.1:n.1893+110_1893+117del
XM_011516309.1:c.1893+110_1893+117del XP_011514611.1:n.1893+110_1893+117del
XM_011516310.1:c.1893+110_1893+117del XP_011514612.1:n.1893+110_1893+117del
XM_011516311.1:c.1893+110_1893+117del XP_011514613.1:n.1893+110_1893+117del
XM_011516312.1:c.1893+110_1893+117del XP_011514614.1:n.1893+110_1893+117del
XM_011516313.1:c.1893+110_1893+117del XP_011514615.1:n.1893+110_1893+117del
XM_011516314.1:c.1914+110_1914+117del XP_011514616.1:n.1914+110_1914+117del
XM_011516315.1:c.1233+110_1233+117del XP_011514617.1:n.1233+110_1233+117del
XR_927478.1:n.1989+110_1989+117del
XM_011516308.3:c.2163+110_2163+117del XP_011514610.3:n.2163+110_2163+117del
XM_011516309.3:c.2163+110_2163+117del XP_011514611.3:n.2163+110_2163+117del
XM_011516310.3:c.2163+110_2163+117del XP_011514612.3:n.2163+110_2163+117del
XM_011516311.3:c.2163+110_2163+117del XP_011514613.3:n.2163+110_2163+117del
XM_011516312.3:c.2163+110_2163+117del XP_011514614.3:n.2163+110_2163+117del
XM_011516313.3:c.2163+110_2163+117del XP_011514615.2:n.2163+110_2163+117del
XM_011516315.3:c.1233+110_1233+117del XP_011514617.2:n.1233+110_1233+117del
XM_017012323.2:c.1893+110_1893+117del XP_016867812.1:n.1893+110_1893+117del
XR_001744809.2:n.2664+110_2664+117del
XR_001744810.2:n.2659+110_2659+117del
NM_000443.4:c.1893+110_1893+117del MANE Select NP_000434.1:n.1893+110_1893+117del
NM_018849.3:c.1893+110_1893+117del NP_061337.1:n.1893+110_1893+117del
NM_018850.3:c.1893+110_1893+117del NP_061338.1:n.1893+110_1893+117del