Canonical Allele Identifier: CA3006969427

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846428_43846431dup , CM000664.2:g.43846428_43846431dup	GRCh38
NC_000002.11:g.44073567_44073570dup , CM000664.1:g.44073567_44073570dup	GRCh37
NC_000002.10:g.43927071_43927074dup	NCBI36
NG_008884.1:g.12465_12468dup
NG_008884.2:g.19487_19490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+117_322+120dup MANE Select	ENSP00000272286.2:n.322+117_322+120dup
ENST00000643284.1:n.896_899dup
ENST00000644611.1:c.334+117_334+120dup	ENSP00000495423.1:n.334+117_334+120dup
ENST00000272286.2:c.322+117_322+120dup	ENSP00000272286.2:n.322+117_322+120dup
NM_022437.2:c.322+117_322+120dup	NP_071882.1:n.322+117_322+120dup
XM_005264483.2:c.322+117_322+120dup	XP_005264540.1:n.322+117_322+120dup
XM_011533029.1:c.334+117_334+120dup	XP_011531331.1:n.334+117_334+120dup
XM_011533030.1:c.334+117_334+120dup	XP_011531332.1:n.334+117_334+120dup
XM_011533031.1:c.106+117_106+120dup	XP_011531333.1:n.106+117_106+120dup
XR_939707.1:n.824+117_824+120dup
NM_001357321.1:c.322+117_322+120dup	NP_001344250.1:n.322+117_322+120dup
XM_011533029.2:c.334+117_334+120dup	XP_011531331.1:n.334+117_334+120dup
XM_011533030.2:c.334+117_334+120dup	XP_011531332.1:n.334+117_334+120dup
XR_001738891.1:n.838+117_838+120dup
XR_939707.2:n.838+117_838+120dup
NM_022437.3:c.322+117_322+120dup MANE Select	NP_071882.1:n.322+117_322+120dup
NM_001357321.2:c.322+117_322+120dup	NP_001344250.1:n.322+117_322+120dup