Canonical Allele Identifier: CA2493964910

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877410_43877418delinsGGAGACTGT , CM000664.2:g.43877410_43877418delinsGGAGACTGT	GRCh38
NC_000002.11:g.44104549_44104557delinsGGAGACTGT , CM000664.1:g.44104549_44104557delinsGGAGACTGT	GRCh37
NC_000002.10:g.43958053_43958061delinsGGAGACTGT	NCBI36
NG_008884.1:g.43447_43455delinsGGAGACTGT
NG_008884.2:g.50469_50477delinsGGAGACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-151_1757-143delinsGGAGACTGT MANE Select	ENSP00000272286.2:n.1757-151_1757-143delinsGGAGACTGT
ENST00000272286.2:c.1757-151_1757-143delinsGGAGACTGT	ENSP00000272286.2:n.1757-151_1757-143delinsGGAGACTGT
NM_022437.2:c.1757-151_1757-143delinsGGAGACTGT	NP_071882.1:n.1757-151_1757-143delinsGGAGACTGT
XM_005264483.2:c.1754-151_1754-143delinsGGAGACTGT	XP_005264540.1:n.1754-151_1754-143delinsGGAGACTGT
XM_011533029.1:c.1769-151_1769-143delinsGGAGACTGT	XP_011531331.1:n.1769-151_1769-143delinsGGAGACTGT
XM_011533030.1:c.1766-151_1766-143delinsGGAGACTGT	XP_011531332.1:n.1766-151_1766-143delinsGGAGACTGT
XM_011533031.1:c.1541-151_1541-143delinsGGAGACTGT	XP_011531333.1:n.1541-151_1541-143delinsGGAGACTGT
XR_939707.1:n.2259-151_2259-143delinsGGAGACTGT
NM_001357321.1:c.1754-151_1754-143delinsGGAGACTGT	NP_001344250.1:n.1754-151_1754-143delinsGGAGACTGT
XM_011533029.2:c.1769-151_1769-143delinsGGAGACTGT	XP_011531331.1:n.1769-151_1769-143delinsGGAGACTGT
XM_011533030.2:c.1766-151_1766-143delinsGGAGACTGT	XP_011531332.1:n.1766-151_1766-143delinsGGAGACTGT
XR_001738891.1:n.2273-151_2273-143delinsGGAGACTGT
XR_939707.2:n.2273-151_2273-143delinsGGAGACTGT
NM_022437.3:c.1757-151_1757-143delinsGGAGACTGT MANE Select	NP_071882.1:n.1757-151_1757-143delinsGGAGACTGT
NM_001357321.2:c.1754-151_1754-143delinsGGAGACTGT	NP_001344250.1:n.1754-151_1754-143delinsGGAGACTGT