Canonical Allele Identifier: CA2586969105

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846245dup , CM000664.2:g.43846245dup	GRCh38
NC_000002.11:g.44073384dup , CM000664.1:g.44073384dup	GRCh37
NC_000002.10:g.43926888dup	NCBI36
NG_008884.1:g.12282dup
NG_008884.2:g.19304dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.256dup MANE Select	ENSP00000272286.2:p.Leu86ProfsTer?
ENST00000643284.1:n.713dup
ENST00000644611.1:c.268dup	ENSP00000495423.1:p.Leu90ProfsTer?
ENST00000272286.2:c.256dup	ENSP00000272286.2:p.Leu86ProfsTer?
NM_022437.2:c.256dup	NP_071882.1:p.Leu86ProfsTer?
XM_005264483.2:c.256dup	XP_005264540.1:p.Leu86ProfsTer?
XM_011533029.1:c.268dup	XP_011531331.1:p.Leu90ProfsTer?
XM_011533030.1:c.268dup	XP_011531332.1:p.Leu90ProfsTer?
XM_011533031.1:c.40dup	XP_011531333.1:p.Leu14ProfsTer?
XR_939707.1:n.758dup
NM_001357321.1:c.256dup	NP_001344250.1:p.Leu86ProfsTer?
XM_011533029.2:c.268dup	XP_011531331.1:p.Leu90ProfsTer?
XM_011533030.2:c.268dup	XP_011531332.1:p.Leu90ProfsTer?
XR_001738891.1:n.772dup
XR_939707.2:n.772dup
NM_022437.3:c.256dup MANE Select	NP_071882.1:p.Leu86ProfsTer?
NM_001357321.2:c.256dup	NP_001344250.1:p.Leu86ProfsTer?