Canonical Allele Identifier: CA2839950972

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87447190_87447191insTTG , CM000669.2:g.87447190_87447191insTTG	GRCh38
NC_000007.13:g.87076506_87076507insTTG , CM000669.1:g.87076506_87076507insTTG	GRCh37
NC_000007.12:g.86914442_86914443insTTG	NCBI36
NG_007118.1:g.38242_38243insCAA
NG_007118.2:g.38242_38243insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.848_849insCAA	ENSP00000352135.3:p.Leu283delinsPheLys
ENST00000643670.1:c.864_865insCAA	ENSP00000496629.1:n.864_865insCAA
ENST00000644106.1:c.*385_*386insCAA	ENSP00000493477.1:n.*385_*386insCAA
ENST00000649586.2:c.848_849insCAA MANE Select	ENSP00000496956.2:p.Leu283delinsPheLys
ENST00000265723.8:c.848_849insCAA	ENSP00000265723.4:p.Leu283delinsPheLys
ENST00000358400.7:c.848_849insCAA	ENSP00000351172.3:p.Leu283delinsPheLys
ENST00000359206.7:c.848_849insCAA	ENSP00000352135.3:p.Leu283delinsPheLys
ENST00000453593.5:c.848_849insCAA	ENSP00000392983.1:p.Leu283delinsPheLys
NM_000443.3:c.848_849insCAA	NP_000434.1:p.Leu283delinsPheLys
NM_018849.2:c.848_849insCAA	NP_061337.1:p.Leu283delinsPheLys
NM_018850.2:c.848_849insCAA	NP_061338.1:p.Leu283delinsPheLys
XM_011516308.1:c.848_849insCAA	XP_011514610.1:p.Leu283delinsPheLys
XM_011516309.1:c.848_849insCAA	XP_011514611.1:p.Leu283delinsPheLys
XM_011516310.1:c.848_849insCAA	XP_011514612.1:p.Leu283delinsPheLys
XM_011516311.1:c.848_849insCAA	XP_011514613.1:p.Leu283delinsPheLys
XM_011516312.1:c.848_849insCAA	XP_011514614.1:p.Leu283delinsPheLys
XM_011516313.1:c.848_849insCAA	XP_011514615.1:p.Leu283delinsPheLys
XM_011516314.1:c.869_870insCAA	XP_011514616.1:p.Leu290delinsPheLys
XM_011516315.1:c.188_189insCAA	XP_011514617.1:p.Leu63delinsPheLys
XR_927478.1:n.944_945insCAA
XM_011516308.3:c.1118_1119insCAA	XP_011514610.3:p.Leu373delinsPheLys
XM_011516309.3:c.1118_1119insCAA	XP_011514611.3:p.Leu373delinsPheLys
XM_011516310.3:c.1118_1119insCAA	XP_011514612.3:p.Leu373delinsPheLys
XM_011516311.3:c.1118_1119insCAA	XP_011514613.3:p.Leu373delinsPheLys
XM_011516312.3:c.1118_1119insCAA	XP_011514614.3:p.Leu373delinsPheLys
XM_011516313.3:c.1118_1119insCAA	XP_011514615.2:p.Leu373delinsPheLys
XM_011516315.3:c.188_189insCAA	XP_011514617.2:p.Leu63delinsPheLys
XM_017012323.2:c.848_849insCAA	XP_016867812.1:p.Leu283delinsPheLys
XR_001744809.2:n.1619_1620insCAA
XR_001744810.2:n.1614_1615insCAA
NM_000443.4:c.848_849insCAA MANE Select	NP_000434.1:p.Leu283delinsPheLys
NM_018849.3:c.848_849insCAA	NP_061337.1:p.Leu283delinsPheLys
NM_018850.3:c.848_849insCAA	NP_061338.1:p.Leu283delinsPheLys