Canonical Allele Identifier: CA2493941294

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839097_43839101delinsCCACT , CM000664.2:g.43839097_43839101delinsCCACT	GRCh38
NC_000002.11:g.44066236_44066240delinsCCACT , CM000664.1:g.44066236_44066240delinsCCACT	GRCh37
NC_000002.10:g.43919740_43919744delinsCCACT	NCBI36
NG_008883.1:g.4719_4723delinsAGTGG
NG_008884.1:g.5134_5138delinsCCACT
NG_008884.2:g.12156_12160delinsCCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.44_48delinsCCACT MANE Select	ENSP00000272286.2:p.Ala15=
ENST00000643284.1:n.521-5410_521-5406delinsCCACT
ENST00000644611.1:c.76-5410_76-5406delinsCCACT	ENSP00000495423.1:n.76-5410_76-5406delinsCCACT
ENST00000272286.2:c.44_48delinsCCACT	ENSP00000272286.2:p.Ala15=
NM_022437.2:c.44_48delinsCCACT	NP_071882.1:p.Ala15=
XM_005264483.2:c.44_48delinsCCACT	XP_005264540.1:p.Ala15=
XM_011533029.1:c.76-5410_76-5406delinsCCACT	XP_011531331.1:n.76-5410_76-5406delinsCCACT
XM_011533030.1:c.76-5410_76-5406delinsCCACT	XP_011531332.1:n.76-5410_76-5406delinsCCACT
XM_011533031.1:c.-153-5410_-153-5406delinsCCACT	XP_011531333.1:n.-153-5410_-153-5406delinsCCACT
XR_939707.1:n.566-5410_566-5406delinsCCACT
NM_001357321.1:c.44_48delinsCCACT	NP_001344250.1:p.Ala15=
XM_011533029.2:c.76-5410_76-5406delinsCCACT	XP_011531331.1:n.76-5410_76-5406delinsCCACT
XM_011533030.2:c.76-5410_76-5406delinsCCACT	XP_011531332.1:n.76-5410_76-5406delinsCCACT
XR_001738891.1:n.580-5410_580-5406delinsCCACT
XR_939707.2:n.580-5410_580-5406delinsCCACT
NM_022437.3:c.44_48delinsCCACT MANE Select	NP_071882.1:p.Ala15=
NM_001357321.2:c.44_48delinsCCACT	NP_001344250.1:p.Ala15=