Canonical Allele Identifier: CA2493964832

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877265_43877284delinsCGTGGGAATATGGGGAGACT , CM000664.2:g.43877265_43877284delinsCGTGGGAATATGGGGAGACT	GRCh38
NC_000002.11:g.44104404_44104423delinsCGTGGGAATATGGGGAGACT , CM000664.1:g.44104404_44104423delinsCGTGGGAATATGGGGAGACT	GRCh37
NC_000002.10:g.43957908_43957927delinsCGTGGGAATATGGGGAGACT	NCBI36
NG_008884.1:g.43302_43321delinsCGTGGGAATATGGGGAGACT
NG_008884.2:g.50324_50343delinsCGTGGGAATATGGGGAGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-296_1757-277delinsCGTGGGAATATGGGGAGACT MANE Select	ENSP00000272286.2:n.1757-296_1757-277delinsCGTGGGAATATGGGGAGA...
ENST00000272286.2:c.1757-296_1757-277delinsCGTGGGAATATGGGGAGACT	ENSP00000272286.2:n.1757-296_1757-277delinsCGTGGGAATATGGGGAGA...
NM_022437.2:c.1757-296_1757-277delinsCGTGGGAATATGGGGAGACT	NP_071882.1:n.1757-296_1757-277delinsCGTGGGAATATGGGGAGACT
XM_005264483.2:c.1754-296_1754-277delinsCGTGGGAATATGGGGAGACT	XP_005264540.1:n.1754-296_1754-277delinsCGTGGGAATATGGGGAGACT
XM_011533029.1:c.1769-296_1769-277delinsCGTGGGAATATGGGGAGACT	XP_011531331.1:n.1769-296_1769-277delinsCGTGGGAATATGGGGAGACT
XM_011533030.1:c.1766-296_1766-277delinsCGTGGGAATATGGGGAGACT	XP_011531332.1:n.1766-296_1766-277delinsCGTGGGAATATGGGGAGACT
XM_011533031.1:c.1541-296_1541-277delinsCGTGGGAATATGGGGAGACT	XP_011531333.1:n.1541-296_1541-277delinsCGTGGGAATATGGGGAGACT
XR_939707.1:n.2259-296_2259-277delinsCGTGGGAATATGGGGAGACT
NM_001357321.1:c.1754-296_1754-277delinsCGTGGGAATATGGGGAGACT	NP_001344250.1:n.1754-296_1754-277delinsCGTGGGAATATGGGGAGACT
XM_011533029.2:c.1769-296_1769-277delinsCGTGGGAATATGGGGAGACT	XP_011531331.1:n.1769-296_1769-277delinsCGTGGGAATATGGGGAGACT
XM_011533030.2:c.1766-296_1766-277delinsCGTGGGAATATGGGGAGACT	XP_011531332.1:n.1766-296_1766-277delinsCGTGGGAATATGGGGAGACT
XR_001738891.1:n.2273-296_2273-277delinsCGTGGGAATATGGGGAGACT
XR_939707.2:n.2273-296_2273-277delinsCGTGGGAATATGGGGAGACT
NM_022437.3:c.1757-296_1757-277delinsCGTGGGAATATGGGGAGACT MANE Select	NP_071882.1:n.1757-296_1757-277delinsCGTGGGAATATGGGGAGACT
NM_001357321.2:c.1754-296_1754-277delinsCGTGGGAATATGGGGAGACT	NP_001344250.1:n.1754-296_1754-277delinsCGTGGGAATATGGGGAGACT