Canonical Allele Identifier: CA2493964844

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877279_43877298delinsGAGACTGTGGGAATATGAGC , CM000664.2:g.43877279_43877298delinsGAGACTGTGGGAATATGAGC	GRCh38
NC_000002.11:g.44104418_44104437delinsGAGACTGTGGGAATATGAGC , CM000664.1:g.44104418_44104437delinsGAGACTGTGGGAATATGAGC	GRCh37
NC_000002.10:g.43957922_43957941delinsGAGACTGTGGGAATATGAGC	NCBI36
NG_008884.1:g.43316_43335delinsGAGACTGTGGGAATATGAGC
NG_008884.2:g.50338_50357delinsGAGACTGTGGGAATATGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-282_1757-263delinsGAGACTGTGGGAATATGAGC MANE Select	ENSP00000272286.2:n.1757-282_1757-263delinsGAGACTGTGGGAATATGA...
ENST00000272286.2:c.1757-282_1757-263delinsGAGACTGTGGGAATATGAGC	ENSP00000272286.2:n.1757-282_1757-263delinsGAGACTGTGGGAATATGA...
NM_022437.2:c.1757-282_1757-263delinsGAGACTGTGGGAATATGAGC	NP_071882.1:n.1757-282_1757-263delinsGAGACTGTGGGAATATGAGC
XM_005264483.2:c.1754-282_1754-263delinsGAGACTGTGGGAATATGAGC	XP_005264540.1:n.1754-282_1754-263delinsGAGACTGTGGGAATATGAGC
XM_011533029.1:c.1769-282_1769-263delinsGAGACTGTGGGAATATGAGC	XP_011531331.1:n.1769-282_1769-263delinsGAGACTGTGGGAATATGAGC
XM_011533030.1:c.1766-282_1766-263delinsGAGACTGTGGGAATATGAGC	XP_011531332.1:n.1766-282_1766-263delinsGAGACTGTGGGAATATGAGC
XM_011533031.1:c.1541-282_1541-263delinsGAGACTGTGGGAATATGAGC	XP_011531333.1:n.1541-282_1541-263delinsGAGACTGTGGGAATATGAGC
XR_939707.1:n.2259-282_2259-263delinsGAGACTGTGGGAATATGAGC
NM_001357321.1:c.1754-282_1754-263delinsGAGACTGTGGGAATATGAGC	NP_001344250.1:n.1754-282_1754-263delinsGAGACTGTGGGAATATGAGC
XM_011533029.2:c.1769-282_1769-263delinsGAGACTGTGGGAATATGAGC	XP_011531331.1:n.1769-282_1769-263delinsGAGACTGTGGGAATATGAGC
XM_011533030.2:c.1766-282_1766-263delinsGAGACTGTGGGAATATGAGC	XP_011531332.1:n.1766-282_1766-263delinsGAGACTGTGGGAATATGAGC
XR_001738891.1:n.2273-282_2273-263delinsGAGACTGTGGGAATATGAGC
XR_939707.2:n.2273-282_2273-263delinsGAGACTGTGGGAATATGAGC
NM_022437.3:c.1757-282_1757-263delinsGAGACTGTGGGAATATGAGC MANE Select	NP_071882.1:n.1757-282_1757-263delinsGAGACTGTGGGAATATGAGC
NM_001357321.2:c.1754-282_1754-263delinsGAGACTGTGGGAATATGAGC	NP_001344250.1:n.1754-282_1754-263delinsGAGACTGTGGGAATATGAGC