Canonical Allele Identifier: CA2683598693

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87406279_87406280del , CM000669.2:g.87406279_87406280del	GRCh38
NC_000007.13:g.87035595_87035596del , CM000669.1:g.87035595_87035596del	GRCh37
NC_000007.12:g.86873531_86873532del	NCBI36
NG_007118.1:g.79154_79155del
NG_007118.2:g.79154_79155del

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.3486+9_3486+10del MANE Select	NP_000434.1:n.3486+9_3486+10del
ENST00000649586.2:c.3486+9_3486+10del MANE Select	ENSP00000496956.2:n.3486+9_3486+10del
NM_000443.3:c.3486+9_3486+10del	NP_000434.1:n.3486+9_3486+10del
NM_018849.2:c.3507+9_3507+10del	NP_061337.1:n.3507+9_3507+10del
NM_018849.3:c.3507+9_3507+10del	NP_061337.1:n.3507+9_3507+10del
NM_018850.2:c.3345+9_3345+10del	NP_061338.1:n.3345+9_3345+10del
NM_018850.3:c.3345+9_3345+10del	NP_061338.1:n.3345+9_3345+10del
ENST00000265723.8:c.3507+9_3507+10del	ENSP00000265723.4:n.3507+9_3507+10del
ENST00000358400.7:c.3345+9_3345+10del	ENSP00000351172.3:n.3345+9_3345+10del
ENST00000359206.7:c.3486+9_3486+10del	ENSP00000352135.3:n.3486+9_3486+10del
ENST00000359206.8:c.3486+9_3486+10del	ENSP00000352135.3:n.3486+9_3486+10del
ENST00000453593.5:c.3345+9_3345+10del	ENSP00000392983.1:n.3345+9_3345+10del
ENST00000467079.1:n.435_436del
XM_011516308.1:c.3507+9_3507+10del	XP_011514610.1:n.3507+9_3507+10del
XM_011516308.3:c.3777+9_3777+10del	XP_011514610.3:n.3777+9_3777+10del
XM_011516309.1:c.3486+9_3486+10del	XP_011514611.1:n.3486+9_3486+10del
XM_011516309.3:c.3756+9_3756+10del	XP_011514611.3:n.3756+9_3756+10del
XM_011516310.1:c.3402+9_3402+10del	XP_011514612.1:n.3402+9_3402+10del
XM_011516310.3:c.3672+9_3672+10del	XP_011514612.3:n.3672+9_3672+10del
XM_011516311.1:c.3378+9_3378+10del	XP_011514613.1:n.3378+9_3378+10del
XM_011516311.3:c.3648+9_3648+10del	XP_011514613.3:n.3648+9_3648+10del
XM_011516312.1:c.3366+9_3366+10del	XP_011514614.1:n.3366+9_3366+10del
XM_011516312.3:c.3636+9_3636+10del	XP_011514614.3:n.3636+9_3636+10del
XM_011516313.1:c.3345+9_3345+10del	XP_011514615.1:n.3345+9_3345+10del
XM_011516313.3:c.3615+9_3615+10del	XP_011514615.2:n.3615+9_3615+10del
XM_011516314.1:c.3528+9_3528+10del	XP_011514616.1:n.3528+9_3528+10del
XM_011516315.1:c.2847+9_2847+10del	XP_011514617.1:n.2847+9_2847+10del
XM_011516315.3:c.2847+9_2847+10del	XP_011514617.2:n.2847+9_2847+10del
XM_017012323.2:c.3507+9_3507+10del	XP_016867812.1:n.3507+9_3507+10del
XR_001744809.2:n.4015+9_4015+10del