Canonical Allele Identifier: CA2493945279

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846510_43846513delinsCTGT , CM000664.2:g.43846510_43846513delinsCTGT	GRCh38
NC_000002.11:g.44073649_44073652delinsCTGT , CM000664.1:g.44073649_44073652delinsCTGT	GRCh37
NC_000002.10:g.43927153_43927156delinsCTGT	NCBI36
NG_008884.1:g.12547_12550delinsCTGT
NG_008884.2:g.19569_19572delinsCTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+199_322+202delinsCTGT MANE Select	ENSP00000272286.2:n.322+199_322+202delinsCTGT
ENST00000643284.1:n.978_981delinsCTGT
ENST00000644611.1:c.334+199_334+202delinsCTGT	ENSP00000495423.1:n.334+199_334+202delinsCTGT
ENST00000272286.2:c.322+199_322+202delinsCTGT	ENSP00000272286.2:n.322+199_322+202delinsCTGT
NM_022437.2:c.322+199_322+202delinsCTGT	NP_071882.1:n.322+199_322+202delinsCTGT
XM_005264483.2:c.322+199_322+202delinsCTGT	XP_005264540.1:n.322+199_322+202delinsCTGT
XM_011533029.1:c.334+199_334+202delinsCTGT	XP_011531331.1:n.334+199_334+202delinsCTGT
XM_011533030.1:c.334+199_334+202delinsCTGT	XP_011531332.1:n.334+199_334+202delinsCTGT
XM_011533031.1:c.106+199_106+202delinsCTGT	XP_011531333.1:n.106+199_106+202delinsCTGT
XR_939707.1:n.824+199_824+202delinsCTGT
NM_001357321.1:c.322+199_322+202delinsCTGT	NP_001344250.1:n.322+199_322+202delinsCTGT
XM_011533029.2:c.334+199_334+202delinsCTGT	XP_011531331.1:n.334+199_334+202delinsCTGT
XM_011533030.2:c.334+199_334+202delinsCTGT	XP_011531332.1:n.334+199_334+202delinsCTGT
XR_001738891.1:n.838+199_838+202delinsCTGT
XR_939707.2:n.838+199_838+202delinsCTGT
NM_022437.3:c.322+199_322+202delinsCTGT MANE Select	NP_071882.1:n.322+199_322+202delinsCTGT
NM_001357321.2:c.322+199_322+202delinsCTGT	NP_001344250.1:n.322+199_322+202delinsCTGT