Canonical Allele Identifier: CA2695208144

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87423946_87423947insC , CM000669.2:g.87423946_87423947insC	GRCh38
NC_000007.13:g.87053262_87053263insC , CM000669.1:g.87053262_87053263insC	GRCh37
NC_000007.12:g.86891198_86891199insC	NCBI36
NG_007118.1:g.61486_61487insG
NG_007118.2:g.61486_61487insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2170_2171insG	ENSP00000352135.3:p.Leu724ArgfsTer21
ENST00000643670.1:c.2186_2187insG	ENSP00000496629.1:n.2186_2187insG
ENST00000649586.2:c.2170_2171insG MANE Select	ENSP00000496956.2:p.Leu724ArgfsTer21
ENST00000265723.8:c.2170_2171insG	ENSP00000265723.4:p.Leu724ArgfsTer21
ENST00000358400.7:c.2170_2171insG	ENSP00000351172.3:p.Leu724ArgfsTer21
ENST00000359206.7:c.2170_2171insG	ENSP00000352135.3:p.Leu724ArgfsTer21
ENST00000453593.5:c.2170_2171insG	ENSP00000392983.1:p.Leu724ArgfsTer21
ENST00000469770.1:n.374_375insG
NM_000443.3:c.2170_2171insG	NP_000434.1:p.Leu724ArgfsTer21
NM_018849.2:c.2170_2171insG	NP_061337.1:p.Leu724ArgfsTer21
NM_018850.2:c.2170_2171insG	NP_061338.1:p.Leu724ArgfsTer21
XM_011516308.1:c.2170_2171insG	XP_011514610.1:p.Leu724ArgfsTer21
XM_011516309.1:c.2170_2171insG	XP_011514611.1:p.Leu724ArgfsTer21
XM_011516310.1:c.2170_2171insG	XP_011514612.1:p.Leu724ArgfsTer?
XM_011516311.1:c.2170_2171insG	XP_011514613.1:p.Leu724ArgfsTer21
XM_011516312.1:c.2170_2171insG	XP_011514614.1:p.Leu724ArgfsTer21
XM_011516313.1:c.2170_2171insG	XP_011514615.1:p.Leu724ArgfsTer21
XM_011516314.1:c.2191_2192insG	XP_011514616.1:p.Leu731ArgfsTer21
XM_011516315.1:c.1510_1511insG	XP_011514617.1:p.Leu504ArgfsTer21
XR_927478.1:n.2266_2267insG
XM_011516308.3:c.2440_2441insG	XP_011514610.3:p.Leu814ArgfsTer21
XM_011516309.3:c.2440_2441insG	XP_011514611.3:p.Leu814ArgfsTer21
XM_011516310.3:c.2440_2441insG	XP_011514612.3:p.Leu814ArgfsTer?
XM_011516311.3:c.2440_2441insG	XP_011514613.3:p.Leu814ArgfsTer21
XM_011516312.3:c.2440_2441insG	XP_011514614.3:p.Leu814ArgfsTer21
XM_011516313.3:c.2440_2441insG	XP_011514615.2:p.Leu814ArgfsTer21
XM_011516315.3:c.1510_1511insG	XP_011514617.2:p.Leu504ArgfsTer21
XM_017012323.2:c.2170_2171insG	XP_016867812.1:p.Leu724ArgfsTer21
XR_001744809.2:n.2941_2942insG
XR_001744810.2:n.2936_2937insG
NM_000443.4:c.2170_2171insG MANE Select	NP_000434.1:p.Leu724ArgfsTer21
NM_018849.3:c.2170_2171insG	NP_061337.1:p.Leu724ArgfsTer21
NM_018850.3:c.2170_2171insG	NP_061338.1:p.Leu724ArgfsTer21