Canonical Allele Identifier: CA2658828442

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846726-C-CGGCAGCGTCAGATGTGTATAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846726_43846727insGGCAGCGTCAGATGTGTATAAG , CM000664.2:g.43846726_43846727insGGCAGCGTCAGATGTGTATAAG	GRCh38
NC_000002.11:g.44073865_44073866insGGCAGCGTCAGATGTGTATAAG , CM000664.1:g.44073865_44073866insGGCAGCGTCAGATGTGTATAAG	GRCh37
NC_000002.10:g.43927369_43927370insGGCAGCGTCAGATGTGTATAAG	NCBI36
NG_008884.1:g.12763_12764insGGCAGCGTCAGATGTGTATAAG
NG_008884.2:g.19785_19786insGGCAGCGTCAGATGTGTATAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+415_322+416insGGCAGCGTCAGATGTGTATAAG MANE Select	ENSP00000272286.2:n.322+415_322+416insGGCAGCGTCAGATGTGTATAAG
ENST00000643284.1:n.1194_1195insGGCAGCGTCAGATGTGTATAAG
ENST00000644611.1:c.334+415_334+416insGGCAGCGTCAGATGTGTATAAG	ENSP00000495423.1:n.334+415_334+416insGGCAGCGTCAGATGTGTATAAG
ENST00000272286.2:c.322+415_322+416insGGCAGCGTCAGATGTGTATAAG	ENSP00000272286.2:n.322+415_322+416insGGCAGCGTCAGATGTGTATAAG
NM_022437.2:c.322+415_322+416insGGCAGCGTCAGATGTGTATAAG	NP_071882.1:n.322+415_322+416insGGCAGCGTCAGATGTGTATAAG
XM_005264483.2:c.322+415_322+416insGGCAGCGTCAGATGTGTATAAG	XP_005264540.1:n.322+415_322+416insGGCAGCGTCAGATGTGTATAAG
XM_011533029.1:c.334+415_334+416insGGCAGCGTCAGATGTGTATAAG	XP_011531331.1:n.334+415_334+416insGGCAGCGTCAGATGTGTATAAG
XM_011533030.1:c.334+415_334+416insGGCAGCGTCAGATGTGTATAAG	XP_011531332.1:n.334+415_334+416insGGCAGCGTCAGATGTGTATAAG
XM_011533031.1:c.106+415_106+416insGGCAGCGTCAGATGTGTATAAG	XP_011531333.1:n.106+415_106+416insGGCAGCGTCAGATGTGTATAAG
XR_939707.1:n.824+415_824+416insGGCAGCGTCAGATGTGTATAAG
NM_001357321.1:c.322+415_322+416insGGCAGCGTCAGATGTGTATAAG	NP_001344250.1:n.322+415_322+416insGGCAGCGTCAGATGTGTATAAG
XM_011533029.2:c.334+415_334+416insGGCAGCGTCAGATGTGTATAAG	XP_011531331.1:n.334+415_334+416insGGCAGCGTCAGATGTGTATAAG
XM_011533030.2:c.334+415_334+416insGGCAGCGTCAGATGTGTATAAG	XP_011531332.1:n.334+415_334+416insGGCAGCGTCAGATGTGTATAAG
XR_001738891.1:n.838+415_838+416insGGCAGCGTCAGATGTGTATAAG
XR_939707.2:n.838+415_838+416insGGCAGCGTCAGATGTGTATAAG
NM_022437.3:c.322+415_322+416insGGCAGCGTCAGATGTGTATAAG MANE Select	NP_071882.1:n.322+415_322+416insGGCAGCGTCAGATGTGTATAAG
NM_001357321.2:c.322+415_322+416insGGCAGCGTCAGATGTGTATAAG	NP_001344250.1:n.322+415_322+416insGGCAGCGTCAGATGTGTATAAG