Canonical Allele Identifier: CA2776824151

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87412045_87412046insCCAAACACACCCAAC , CM000669.2:g.87412045_87412046insCCAAACACACCCAAC	GRCh38
NC_000007.13:g.87041361_87041362insCCAAACACACCCAAC , CM000669.1:g.87041361_87041362insCCAAACACACCCAAC	GRCh37
NC_000007.12:g.86879297_86879298insCCAAACACACCCAAC	NCBI36
NG_007118.1:g.73387_73388insGTTGGGTGTGTTTGG
NG_007118.2:g.73387_73388insGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2784-13_2784-12insGTTGGGTGTGTTTGG	ENSP00000352135.3:n.2784-13_2784-12insGTTGGGTGTGTTTGG
ENST00000649586.2:c.2784-13_2784-12insGTTGGGTGTGTTTGG MANE Select	ENSP00000496956.2:n.2784-13_2784-12insGTTGGGTGTGTTTGG
ENST00000265723.8:c.2784-13_2784-12insGTTGGGTGTGTTTGG	ENSP00000265723.4:n.2784-13_2784-12insGTTGGGTGTGTTTGG
ENST00000358400.7:c.2783+1571_2783+1572insGTTGGGTGTGTTTGG	ENSP00000351172.3:n.2783+1571_2783+1572insGTTGGGTGTGTTTGG
ENST00000359206.7:c.2784-13_2784-12insGTTGGGTGTGTTTGG	ENSP00000352135.3:n.2784-13_2784-12insGTTGGGTGTGTTTGG
ENST00000453593.5:c.2783+1571_2783+1572insGTTGGGTGTGTTTGG	ENSP00000392983.1:n.2783+1571_2783+1572insGTTGGGTGTGTTTGG
NM_000443.3:c.2784-13_2784-12insGTTGGGTGTGTTTGG	NP_000434.1:n.2784-13_2784-12insGTTGGGTGTGTTTGG
NM_018849.2:c.2784-13_2784-12insGTTGGGTGTGTTTGG	NP_061337.1:n.2784-13_2784-12insGTTGGGTGTGTTTGG
NM_018850.2:c.2783+1571_2783+1572insGTTGGGTGTGTTTGG	NP_061338.1:n.2783+1571_2783+1572insGTTGGGTGTGTTTGG
XM_011516308.1:c.2784-13_2784-12insGTTGGGTGTGTTTGG	XP_011514610.1:n.2784-13_2784-12insGTTGGGTGTGTTTGG
XM_011516309.1:c.2784-13_2784-12insGTTGGGTGTGTTTGG	XP_011514611.1:n.2784-13_2784-12insGTTGGGTGTGTTTGG
XM_011516310.1:c.2679-13_2679-12insGTTGGGTGTGTTTGG	XP_011514612.1:n.2679-13_2679-12insGTTGGGTGTGTTTGG
XM_011516311.1:c.2784-142_2784-141insGTTGGGTGTGTTTGG	XP_011514613.1:n.2784-142_2784-141insGTTGGGTGTGTTTGG
XM_011516312.1:c.2783+1571_2783+1572insGTTGGGTGTGTTTGG	XP_011514614.1:n.2783+1571_2783+1572insGTTGGGTGTGTTTGG
XM_011516313.1:c.2783+1571_2783+1572insGTTGGGTGTGTTTGG	XP_011514615.1:n.2783+1571_2783+1572insGTTGGGTGTGTTTGG
XM_011516314.1:c.2805-13_2805-12insGTTGGGTGTGTTTGG	XP_011514616.1:n.2805-13_2805-12insGTTGGGTGTGTTTGG
XM_011516315.1:c.2124-13_2124-12insGTTGGGTGTGTTTGG	XP_011514617.1:n.2124-13_2124-12insGTTGGGTGTGTTTGG
XR_927478.1:n.2779-2654_2779-2653insGTTGGGTGTGTTTGG
XM_011516308.3:c.3054-13_3054-12insGTTGGGTGTGTTTGG	XP_011514610.3:n.3054-13_3054-12insGTTGGGTGTGTTTGG
XM_011516309.3:c.3054-13_3054-12insGTTGGGTGTGTTTGG	XP_011514611.3:n.3054-13_3054-12insGTTGGGTGTGTTTGG
XM_011516310.3:c.2949-13_2949-12insGTTGGGTGTGTTTGG	XP_011514612.3:n.2949-13_2949-12insGTTGGGTGTGTTTGG
XM_011516311.3:c.3054-142_3054-141insGTTGGGTGTGTTTGG	XP_011514613.3:n.3054-142_3054-141insGTTGGGTGTGTTTGG
XM_011516312.3:c.3053+1571_3053+1572insGTTGGGTGTGTTTGG	XP_011514614.3:n.3053+1571_3053+1572insGTTGGGTGTGTTTGG
XM_011516313.3:c.3053+1571_3053+1572insGTTGGGTGTGTTTGG	XP_011514615.2:n.3053+1571_3053+1572insGTTGGGTGTGTTTGG
XM_011516315.3:c.2124-13_2124-12insGTTGGGTGTGTTTGG	XP_011514617.2:n.2124-13_2124-12insGTTGGGTGTGTTTGG
XM_017012323.2:c.2784-13_2784-12insGTTGGGTGTGTTTGG	XP_016867812.1:n.2784-13_2784-12insGTTGGGTGTGTTTGG
XR_001744809.2:n.3454-2654_3454-2653insGTTGGGTGTGTTTGG
NM_000443.4:c.2784-13_2784-12insGTTGGGTGTGTTTGG MANE Select	NP_000434.1:n.2784-13_2784-12insGTTGGGTGTGTTTGG
NM_018849.3:c.2784-13_2784-12insGTTGGGTGTGTTTGG	NP_061337.1:n.2784-13_2784-12insGTTGGGTGTGTTTGG
NM_018850.3:c.2783+1571_2783+1572insGTTGGGTGTGTTTGG	NP_061338.1:n.2783+1571_2783+1572insGTTGGGTGTGTTTGG