Canonical Allele Identifier: CA2563801699

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87452892_87452893insTTTGACAAATCTTTCCTTGACAATTTTTCCTTGA , CM000669.2:g.87452892_87452893insTTTGACAAATCTTTCCTTGACAATTTTTCCTTGA	GRCh38
NC_000007.13:g.87082208_87082209insTTTGACAAATCTTTCCTTGACAATTTTTCCTTGA , CM000669.1:g.87082208_87082209insTTTGACAAATCTTTCCTTGACAATTTTTCCTTGA	GRCh37
NC_000007.12:g.86920144_86920145insTTTGACAAATCTTTCCTTGACAATTTTTCCTTGA	NCBI36
NG_007118.1:g.32540_32541insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA
NG_007118.2:g.32540_32541insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	ENSP00000352135.3:n.536+51_536+52insTCAAG...
ENST00000643670.1:c.479+51_479+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	ENSP00000496629.1:n.479+51_479+52insTCAAG...
ENST00000644106.1:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	ENSP00000493477.1:n.536+51_536+52insTCAAG...
ENST00000649586.2:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA MANE Select	ENSP00000496956.2:n.536+51_536+52insTCAAG...
ENST00000265723.8:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	ENSP00000265723.4:n.536+51_536+52insTCAAG...
ENST00000358400.7:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	ENSP00000351172.3:n.536+51_536+52insTCAAG...
ENST00000359206.7:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	ENSP00000352135.3:n.536+51_536+52insTCAAG...
ENST00000453593.5:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	ENSP00000392983.1:n.536+51_536+52insTCAAG...
ENST00000473795.1:n.594_595insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA
NM_000443.3:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	NP_000434.1:n.536+51_536+52insTCAAGGAAAAA...
NM_018849.2:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	NP_061337.1:n.536+51_536+52insTCAAGGAAAAA...
NM_018850.2:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	NP_061338.1:n.536+51_536+52insTCAAGGAAAAA...
XM_011516308.1:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514610.1:n.536+51_536+52insTCAAGGAA...
XM_011516309.1:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514611.1:n.536+51_536+52insTCAAGGAA...
XM_011516310.1:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514612.1:n.536+51_536+52insTCAAGGAA...
XM_011516311.1:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514613.1:n.536+51_536+52insTCAAGGAA...
XM_011516312.1:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514614.1:n.536+51_536+52insTCAAGGAA...
XM_011516313.1:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514615.1:n.536+51_536+52insTCAAGGAA...
XM_011516314.1:c.557+51_557+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514616.1:n.557+51_557+52insTCAAGGAA...
XM_011516315.1:c.-48+51_-48+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514617.1:n.-48+51_-48+52insTCAAGGAA...
XR_927478.1:n.632+51_632+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA
XM_011516308.3:c.806+51_806+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514610.3:n.806+51_806+52insTCAAGGAA...
XM_011516309.3:c.806+51_806+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514611.3:n.806+51_806+52insTCAAGGAA...
XM_011516310.3:c.806+51_806+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514612.3:n.806+51_806+52insTCAAGGAA...
XM_011516311.3:c.806+51_806+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514613.3:n.806+51_806+52insTCAAGGAA...
XM_011516312.3:c.806+51_806+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514614.3:n.806+51_806+52insTCAAGGAA...
XM_011516313.3:c.806+51_806+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514615.2:n.806+51_806+52insTCAAGGAA...
XM_011516315.3:c.-48+51_-48+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_011514617.2:n.-48+51_-48+52insTCAAGGAA...
XM_017012323.2:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	XP_016867812.1:n.536+51_536+52insTCAAGGAA...
XR_001744809.2:n.1307+51_1307+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA
XR_001744810.2:n.1302+51_1302+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA
NM_000443.4:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA MANE Select	NP_000434.1:n.536+51_536+52insTCAAGGAAAAA...
NM_018849.3:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	NP_061337.1:n.536+51_536+52insTCAAGGAAAAA...
NM_018850.3:c.536+51_536+52insTCAAGGAAAAATTGTCAAGGAAAGATTTGTCAAA	NP_061338.1:n.536+51_536+52insTCAAGGAAAAA...