Canonical Allele Identifier: CA2683599280

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87417450-TATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417453_87417455del , CM000669.2:g.87417453_87417455del	GRCh38
NC_000007.13:g.87046769_87046771del , CM000669.1:g.87046769_87046771del	GRCh37
NC_000007.12:g.86884705_86884707del	NCBI36
NG_007118.1:g.67980_67982del
NG_007118.2:g.67980_67982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2541_2543del	ENSP00000352135.3:p.Ile848del
ENST00000649586.2:c.2541_2543del MANE Select	ENSP00000496956.2:p.Ile848del
ENST00000265723.8:c.2541_2543del	ENSP00000265723.4:p.Ile848del
ENST00000358400.7:c.2541_2543del	ENSP00000351172.3:p.Ile848del
ENST00000359206.7:c.2541_2543del	ENSP00000352135.3:p.Ile848del
ENST00000453593.5:c.2541_2543del	ENSP00000392983.1:p.Ile848del
NM_000443.3:c.2541_2543del	NP_000434.1:p.Ile848del
NM_018849.2:c.2541_2543del	NP_061337.1:p.Ile848del
NM_018850.2:c.2541_2543del	NP_061338.1:p.Ile848del
XM_011516308.1:c.2541_2543del	XP_011514610.1:p.Ile848del
XM_011516309.1:c.2541_2543del	XP_011514611.1:p.Ile848del
XM_011516310.1:c.2436_2438del	XP_011514612.1:p.Ile813del
XM_011516311.1:c.2541_2543del	XP_011514613.1:p.Ile848del
XM_011516312.1:c.2541_2543del	XP_011514614.1:p.Ile848del
XM_011516313.1:c.2541_2543del	XP_011514615.1:p.Ile848del
XM_011516314.1:c.2562_2564del	XP_011514616.1:p.Ile855del
XM_011516315.1:c.1881_1883del	XP_011514617.1:p.Ile628del
XR_927478.1:n.2637_2639del
XM_011516308.3:c.2811_2813del	XP_011514610.3:p.Ile938del
XM_011516309.3:c.2811_2813del	XP_011514611.3:p.Ile938del
XM_011516310.3:c.2706_2708del	XP_011514612.3:p.Ile903del
XM_011516311.3:c.2811_2813del	XP_011514613.3:p.Ile938del
XM_011516312.3:c.2811_2813del	XP_011514614.3:p.Ile938del
XM_011516313.3:c.2811_2813del	XP_011514615.2:p.Ile938del
XM_011516315.3:c.1881_1883del	XP_011514617.2:p.Ile628del
XM_017012323.2:c.2541_2543del	XP_016867812.1:p.Ile848del
XR_001744809.2:n.3312_3314del
NM_000443.4:c.2541_2543del MANE Select	NP_000434.1:p.Ile848del
NM_018849.3:c.2541_2543del	NP_061337.1:p.Ile848del
NM_018850.3:c.2541_2543del	NP_061338.1:p.Ile848del