Canonical Allele Identifier: CA2683600002

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87431331-GATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87431334_87431336del , CM000669.2:g.87431334_87431336del	GRCh38
NC_000007.13:g.87060650_87060652del , CM000669.1:g.87060650_87060652del	GRCh37
NC_000007.12:g.86898586_86898588del	NCBI36
NG_007118.1:g.54099_54101del
NG_007118.2:g.54099_54101del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.1893+70_1893+72del	ENSP00000352135.3:n.1893+70_1893+72del
ENST00000643670.1:c.1909+70_1909+72del	ENSP00000496629.1:n.1909+70_1909+72del
ENST00000644106.1:c.*1430+70_*1430+72del	ENSP00000493477.1:n.*1430+70_*1430+72del
ENST00000649586.2:c.1893+70_1893+72del MANE Select	ENSP00000496956.2:n.1893+70_1893+72del
ENST00000265723.8:c.1893+70_1893+72del	ENSP00000265723.4:n.1893+70_1893+72del
ENST00000358400.7:c.1893+70_1893+72del	ENSP00000351172.3:n.1893+70_1893+72del
ENST00000359206.7:c.1893+70_1893+72del	ENSP00000352135.3:n.1893+70_1893+72del
ENST00000453593.5:c.1893+70_1893+72del	ENSP00000392983.1:n.1893+70_1893+72del
ENST00000469770.1:n.97+70_97+72del
NM_000443.3:c.1893+70_1893+72del	NP_000434.1:n.1893+70_1893+72del
NM_018849.2:c.1893+70_1893+72del	NP_061337.1:n.1893+70_1893+72del
NM_018850.2:c.1893+70_1893+72del	NP_061338.1:n.1893+70_1893+72del
XM_011516308.1:c.1893+70_1893+72del	XP_011514610.1:n.1893+70_1893+72del
XM_011516309.1:c.1893+70_1893+72del	XP_011514611.1:n.1893+70_1893+72del
XM_011516310.1:c.1893+70_1893+72del	XP_011514612.1:n.1893+70_1893+72del
XM_011516311.1:c.1893+70_1893+72del	XP_011514613.1:n.1893+70_1893+72del
XM_011516312.1:c.1893+70_1893+72del	XP_011514614.1:n.1893+70_1893+72del
XM_011516313.1:c.1893+70_1893+72del	XP_011514615.1:n.1893+70_1893+72del
XM_011516314.1:c.1914+70_1914+72del	XP_011514616.1:n.1914+70_1914+72del
XM_011516315.1:c.1233+70_1233+72del	XP_011514617.1:n.1233+70_1233+72del
XR_927478.1:n.1989+70_1989+72del
XM_011516308.3:c.2163+70_2163+72del	XP_011514610.3:n.2163+70_2163+72del
XM_011516309.3:c.2163+70_2163+72del	XP_011514611.3:n.2163+70_2163+72del
XM_011516310.3:c.2163+70_2163+72del	XP_011514612.3:n.2163+70_2163+72del
XM_011516311.3:c.2163+70_2163+72del	XP_011514613.3:n.2163+70_2163+72del
XM_011516312.3:c.2163+70_2163+72del	XP_011514614.3:n.2163+70_2163+72del
XM_011516313.3:c.2163+70_2163+72del	XP_011514615.2:n.2163+70_2163+72del
XM_011516315.3:c.1233+70_1233+72del	XP_011514617.2:n.1233+70_1233+72del
XM_017012323.2:c.1893+70_1893+72del	XP_016867812.1:n.1893+70_1893+72del
XR_001744809.2:n.2664+70_2664+72del
XR_001744810.2:n.2659+70_2659+72del
NM_000443.4:c.1893+70_1893+72del MANE Select	NP_000434.1:n.1893+70_1893+72del
NM_018849.3:c.1893+70_1893+72del	NP_061337.1:n.1893+70_1893+72del
NM_018850.3:c.1893+70_1893+72del	NP_061338.1:n.1893+70_1893+72del