Canonical Allele Identifier: CA2695208143

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87423942_87423943delinsGG , CM000669.2:g.87423942_87423943delinsGG	GRCh38
NC_000007.13:g.87053258_87053259delinsGG , CM000669.1:g.87053258_87053259delinsGG	GRCh37
NC_000007.12:g.86891194_86891195delinsGG	NCBI36
NG_007118.1:g.61490_61491delinsCC
NG_007118.2:g.61490_61491delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2174_2175delinsCC	ENSP00000352135.3:p.Gln725Pro
ENST00000643670.1:c.2190_2191delinsCC	ENSP00000496629.1:n.2190_2191delinsCC
ENST00000649586.2:c.2174_2175delinsCC MANE Select	ENSP00000496956.2:p.Gln725Pro
ENST00000265723.8:c.2174_2175delinsCC	ENSP00000265723.4:p.Gln725Pro
ENST00000358400.7:c.2174_2175delinsCC	ENSP00000351172.3:p.Gln725Pro
ENST00000359206.7:c.2174_2175delinsCC	ENSP00000352135.3:p.Gln725Pro
ENST00000453593.5:c.2174_2175delinsCC	ENSP00000392983.1:p.Gln725Pro
ENST00000469770.1:n.378_379delinsCC
NM_000443.3:c.2174_2175delinsCC	NP_000434.1:p.Gln725Pro
NM_018849.2:c.2174_2175delinsCC	NP_061337.1:p.Gln725Pro
NM_018850.2:c.2174_2175delinsCC	NP_061338.1:p.Gln725Pro
XM_011516308.1:c.2174_2175delinsCC	XP_011514610.1:p.Gln725Pro
XM_011516309.1:c.2174_2175delinsCC	XP_011514611.1:p.Gln725Pro
XM_011516310.1:c.2174_2175delinsCC	XP_011514612.1:p.Gln725Pro
XM_011516311.1:c.2174_2175delinsCC	XP_011514613.1:p.Gln725Pro
XM_011516312.1:c.2174_2175delinsCC	XP_011514614.1:p.Gln725Pro
XM_011516313.1:c.2174_2175delinsCC	XP_011514615.1:p.Gln725Pro
XM_011516314.1:c.2195_2196delinsCC	XP_011514616.1:p.Gln732Pro
XM_011516315.1:c.1514_1515delinsCC	XP_011514617.1:p.Gln505Pro
XR_927478.1:n.2270_2271delinsCC
XM_011516308.3:c.2444_2445delinsCC	XP_011514610.3:p.Gln815Pro
XM_011516309.3:c.2444_2445delinsCC	XP_011514611.3:p.Gln815Pro
XM_011516310.3:c.2444_2445delinsCC	XP_011514612.3:p.Gln815Pro
XM_011516311.3:c.2444_2445delinsCC	XP_011514613.3:p.Gln815Pro
XM_011516312.3:c.2444_2445delinsCC	XP_011514614.3:p.Gln815Pro
XM_011516313.3:c.2444_2445delinsCC	XP_011514615.2:p.Gln815Pro
XM_011516315.3:c.1514_1515delinsCC	XP_011514617.2:p.Gln505Pro
XM_017012323.2:c.2174_2175delinsCC	XP_016867812.1:p.Gln725Pro
XR_001744809.2:n.2945_2946delinsCC
XR_001744810.2:n.2940_2941delinsCC
NM_000443.4:c.2174_2175delinsCC MANE Select	NP_000434.1:p.Gln725Pro
NM_018849.3:c.2174_2175delinsCC	NP_061337.1:p.Gln725Pro
NM_018850.3:c.2174_2175delinsCC	NP_061338.1:p.Gln725Pro