Canonical Allele Identifier: CA2580615909

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2571280
• ClinVar RCV Id: RCV003312681

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417403_87417407delinsGATCAGACACACTTTCAATCAGTGTTTAACACTGAT , CM000669.2:g.87417403_87417407delinsGATCAGACACACTTTCAATCAGTGTTTAACACTGAT	GRCh38
NC_000007.13:g.87046719_87046723delinsGATCAGACACACTTTCAATCAGTGTTTAACACTGAT , CM000669.1:g.87046719_87046723delinsGATCAGACACACTTTCAATCAGTGTTTAACACTGAT	GRCh37
NC_000007.12:g.86884655_86884659delinsGATCAGACACACTTTCAATCAGTGTTTAACACTGAT	NCBI36
NG_007118.1:g.68026_68030delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC
NG_007118.2:g.68026_68030delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	ENSP00000352135.3:p.Val863IlefsTer6
ENST00000649586.2:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC MANE Select	ENSP00000496956.2:p.Val863IlefsTer6
ENST00000265723.8:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	ENSP00000265723.4:p.Val863IlefsTer6
ENST00000358400.7:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	ENSP00000351172.3:p.Val863IlefsTer6
ENST00000359206.7:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	ENSP00000352135.3:p.Val863IlefsTer6
ENST00000453593.5:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	ENSP00000392983.1:p.Val863IlefsTer6
NM_000443.3:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	NP_000434.1:p.Val863IlefsTer6
NM_018849.2:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	NP_061337.1:p.Val863IlefsTer6
NM_018850.2:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	NP_061338.1:p.Val863IlefsTer6
XM_011516308.1:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514610.1:p.Val863IlefsTer6
XM_011516309.1:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514611.1:p.Val863IlefsTer6
XM_011516310.1:c.2482_2486delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514612.1:p.Val828IlefsTer6
XM_011516311.1:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514613.1:p.Val863IlefsTer6
XM_011516312.1:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514614.1:p.Val863IlefsTer6
XM_011516313.1:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514615.1:p.Val863IlefsTer6
XM_011516314.1:c.2608_2612delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514616.1:p.Val870IlefsTer6
XM_011516315.1:c.1927_1931delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514617.1:p.Val643IlefsTer6
XR_927478.1:n.2683_2687delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC
XM_011516308.3:c.2857_2861delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514610.3:p.Val953IlefsTer6
XM_011516309.3:c.2857_2861delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514611.3:p.Val953IlefsTer6
XM_011516310.3:c.2752_2756delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514612.3:p.Val918IlefsTer6
XM_011516311.3:c.2857_2861delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514613.3:p.Val953IlefsTer6
XM_011516312.3:c.2857_2861delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514614.3:p.Val953IlefsTer6
XM_011516313.3:c.2857_2861delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514615.2:p.Val953IlefsTer6
XM_011516315.3:c.1927_1931delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_011514617.2:p.Val643IlefsTer6
XM_017012323.2:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	XP_016867812.1:p.Val863IlefsTer6
XR_001744809.2:n.3358_3362delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC
NM_000443.4:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC MANE Select	NP_000434.1:p.Val863IlefsTer6
NM_018849.3:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	NP_061337.1:p.Val863IlefsTer6
NM_018850.3:c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC	NP_061338.1:p.Val863IlefsTer6