Canonical Allele Identifier: CA2697557363

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2758037
• ClinVar RCV Id: RCV003569499

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87424026_87424029dup , CM000669.2:g.87424026_87424029dup	GRCh38
NC_000007.13:g.87053342_87053345dup , CM000669.1:g.87053342_87053345dup	GRCh37
NC_000007.12:g.86891278_86891281dup	NCBI36
NG_007118.1:g.61406_61409dup
NG_007118.2:g.61406_61409dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2090_2093dup	ENSP00000352135.3:p.Lys699SerfsTer8
ENST00000643670.1:c.2106_2109dup	ENSP00000496629.1:n.2106_2109dup
ENST00000649586.2:c.2090_2093dup MANE Select	ENSP00000496956.2:p.Lys699SerfsTer8
ENST00000265723.8:c.2090_2093dup	ENSP00000265723.4:p.Lys699SerfsTer8
ENST00000358400.7:c.2090_2093dup	ENSP00000351172.3:p.Lys699SerfsTer8
ENST00000359206.7:c.2090_2093dup	ENSP00000352135.3:p.Lys699SerfsTer8
ENST00000453593.5:c.2090_2093dup	ENSP00000392983.1:p.Lys699SerfsTer8
ENST00000469770.1:n.294_297dup
NM_000443.3:c.2090_2093dup	NP_000434.1:p.Lys699SerfsTer8
NM_018849.2:c.2090_2093dup	NP_061337.1:p.Lys699SerfsTer8
NM_018850.2:c.2090_2093dup	NP_061338.1:p.Lys699SerfsTer8
XM_011516308.1:c.2090_2093dup	XP_011514610.1:p.Lys699SerfsTer8
XM_011516309.1:c.2090_2093dup	XP_011514611.1:p.Lys699SerfsTer8
XM_011516310.1:c.2090_2093dup	XP_011514612.1:p.Lys699SerfsTer8
XM_011516311.1:c.2090_2093dup	XP_011514613.1:p.Lys699SerfsTer8
XM_011516312.1:c.2090_2093dup	XP_011514614.1:p.Lys699SerfsTer8
XM_011516313.1:c.2090_2093dup	XP_011514615.1:p.Lys699SerfsTer8
XM_011516314.1:c.2111_2114dup	XP_011514616.1:p.Lys706SerfsTer8
XM_011516315.1:c.1430_1433dup	XP_011514617.1:p.Lys479SerfsTer8
XR_927478.1:n.2186_2189dup
XM_011516308.3:c.2360_2363dup	XP_011514610.3:p.Lys789SerfsTer8
XM_011516309.3:c.2360_2363dup	XP_011514611.3:p.Lys789SerfsTer8
XM_011516310.3:c.2360_2363dup	XP_011514612.3:p.Lys789SerfsTer8
XM_011516311.3:c.2360_2363dup	XP_011514613.3:p.Lys789SerfsTer8
XM_011516312.3:c.2360_2363dup	XP_011514614.3:p.Lys789SerfsTer8
XM_011516313.3:c.2360_2363dup	XP_011514615.2:p.Lys789SerfsTer8
XM_011516315.3:c.1430_1433dup	XP_011514617.2:p.Lys479SerfsTer8
XM_017012323.2:c.2090_2093dup	XP_016867812.1:p.Lys699SerfsTer8
XR_001744809.2:n.2861_2864dup
XR_001744810.2:n.2856_2859dup
NM_000443.4:c.2090_2093dup MANE Select	NP_000434.1:p.Lys699SerfsTer8
NM_018849.3:c.2090_2093dup	NP_061337.1:p.Lys699SerfsTer8
NM_018850.3:c.2090_2093dup	NP_061338.1:p.Lys699SerfsTer8