Canonical Allele Identifier: CA2493964873

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877336_43877355delinsAGGAGATCGTGGGAATATGG , CM000664.2:g.43877336_43877355delinsAGGAGATCGTGGGAATATGG	GRCh38
NC_000002.11:g.44104475_44104494delinsAGGAGATCGTGGGAATATGG , CM000664.1:g.44104475_44104494delinsAGGAGATCGTGGGAATATGG	GRCh37
NC_000002.10:g.43957979_43957998delinsAGGAGATCGTGGGAATATGG	NCBI36
NG_008884.1:g.43373_43392delinsAGGAGATCGTGGGAATATGG
NG_008884.2:g.50395_50414delinsAGGAGATCGTGGGAATATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-225_1757-206delinsAGGAGATCGTGGGAATATGG MANE Select	ENSP00000272286.2:n.1757-225_1757-206delinsAGGAGATCGTGGGAATAT...
ENST00000272286.2:c.1757-225_1757-206delinsAGGAGATCGTGGGAATATGG	ENSP00000272286.2:n.1757-225_1757-206delinsAGGAGATCGTGGGAATAT...
NM_022437.2:c.1757-225_1757-206delinsAGGAGATCGTGGGAATATGG	NP_071882.1:n.1757-225_1757-206delinsAGGAGATCGTGGGAATATGG
XM_005264483.2:c.1754-225_1754-206delinsAGGAGATCGTGGGAATATGG	XP_005264540.1:n.1754-225_1754-206delinsAGGAGATCGTGGGAATATGG
XM_011533029.1:c.1769-225_1769-206delinsAGGAGATCGTGGGAATATGG	XP_011531331.1:n.1769-225_1769-206delinsAGGAGATCGTGGGAATATGG
XM_011533030.1:c.1766-225_1766-206delinsAGGAGATCGTGGGAATATGG	XP_011531332.1:n.1766-225_1766-206delinsAGGAGATCGTGGGAATATGG
XM_011533031.1:c.1541-225_1541-206delinsAGGAGATCGTGGGAATATGG	XP_011531333.1:n.1541-225_1541-206delinsAGGAGATCGTGGGAATATGG
XR_939707.1:n.2259-225_2259-206delinsAGGAGATCGTGGGAATATGG
NM_001357321.1:c.1754-225_1754-206delinsAGGAGATCGTGGGAATATGG	NP_001344250.1:n.1754-225_1754-206delinsAGGAGATCGTGGGAATATGG
XM_011533029.2:c.1769-225_1769-206delinsAGGAGATCGTGGGAATATGG	XP_011531331.1:n.1769-225_1769-206delinsAGGAGATCGTGGGAATATGG
XM_011533030.2:c.1766-225_1766-206delinsAGGAGATCGTGGGAATATGG	XP_011531332.1:n.1766-225_1766-206delinsAGGAGATCGTGGGAATATGG
XR_001738891.1:n.2273-225_2273-206delinsAGGAGATCGTGGGAATATGG
XR_939707.2:n.2273-225_2273-206delinsAGGAGATCGTGGGAATATGG
NM_022437.3:c.1757-225_1757-206delinsAGGAGATCGTGGGAATATGG MANE Select	NP_071882.1:n.1757-225_1757-206delinsAGGAGATCGTGGGAATATGG
NM_001357321.2:c.1754-225_1754-206delinsAGGAGATCGTGGGAATATGG	NP_001344250.1:n.1754-225_1754-206delinsAGGAGATCGTGGGAATATGG