Canonical Allele Identifier: CA2493964879

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877347_43877366delinsGGAATATGGGGAGATCGTGC , CM000664.2:g.43877347_43877366delinsGGAATATGGGGAGATCGTGC	GRCh38
NC_000002.11:g.44104486_44104505delinsGGAATATGGGGAGATCGTGC , CM000664.1:g.44104486_44104505delinsGGAATATGGGGAGATCGTGC	GRCh37
NC_000002.10:g.43957990_43958009delinsGGAATATGGGGAGATCGTGC	NCBI36
NG_008884.1:g.43384_43403delinsGGAATATGGGGAGATCGTGC
NG_008884.2:g.50406_50425delinsGGAATATGGGGAGATCGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-214_1757-195delinsGGAATATGGGGAGATCGTGC MANE Select	ENSP00000272286.2:n.1757-214_1757-195delinsGGAATATGGGGAGATCGT...
ENST00000272286.2:c.1757-214_1757-195delinsGGAATATGGGGAGATCGTGC	ENSP00000272286.2:n.1757-214_1757-195delinsGGAATATGGGGAGATCGT...
NM_022437.2:c.1757-214_1757-195delinsGGAATATGGGGAGATCGTGC	NP_071882.1:n.1757-214_1757-195delinsGGAATATGGGGAGATCGTGC
XM_005264483.2:c.1754-214_1754-195delinsGGAATATGGGGAGATCGTGC	XP_005264540.1:n.1754-214_1754-195delinsGGAATATGGGGAGATCGTGC
XM_011533029.1:c.1769-214_1769-195delinsGGAATATGGGGAGATCGTGC	XP_011531331.1:n.1769-214_1769-195delinsGGAATATGGGGAGATCGTGC
XM_011533030.1:c.1766-214_1766-195delinsGGAATATGGGGAGATCGTGC	XP_011531332.1:n.1766-214_1766-195delinsGGAATATGGGGAGATCGTGC
XM_011533031.1:c.1541-214_1541-195delinsGGAATATGGGGAGATCGTGC	XP_011531333.1:n.1541-214_1541-195delinsGGAATATGGGGAGATCGTGC
XR_939707.1:n.2259-214_2259-195delinsGGAATATGGGGAGATCGTGC
NM_001357321.1:c.1754-214_1754-195delinsGGAATATGGGGAGATCGTGC	NP_001344250.1:n.1754-214_1754-195delinsGGAATATGGGGAGATCGTGC
XM_011533029.2:c.1769-214_1769-195delinsGGAATATGGGGAGATCGTGC	XP_011531331.1:n.1769-214_1769-195delinsGGAATATGGGGAGATCGTGC
XM_011533030.2:c.1766-214_1766-195delinsGGAATATGGGGAGATCGTGC	XP_011531332.1:n.1766-214_1766-195delinsGGAATATGGGGAGATCGTGC
XR_001738891.1:n.2273-214_2273-195delinsGGAATATGGGGAGATCGTGC
XR_939707.2:n.2273-214_2273-195delinsGGAATATGGGGAGATCGTGC
NM_022437.3:c.1757-214_1757-195delinsGGAATATGGGGAGATCGTGC MANE Select	NP_071882.1:n.1757-214_1757-195delinsGGAATATGGGGAGATCGTGC
NM_001357321.2:c.1754-214_1754-195delinsGGAATATGGGGAGATCGTGC	NP_001344250.1:n.1754-214_1754-195delinsGGAATATGGGGAGATCGTGC