Canonical Allele Identifier: CA2493941153

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839007_43839008delinsCT , CM000664.2:g.43839007_43839008delinsCT	GRCh38
NC_000002.11:g.44066146_44066147delinsCT , CM000664.1:g.44066146_44066147delinsCT	GRCh37
NC_000002.10:g.43919650_43919651delinsCT	NCBI36
NG_008883.1:g.4812_4813delinsAG
NG_008884.1:g.5044_5045delinsCT
NG_008884.2:g.12066_12067delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.-47_-46delinsCT MANE Select	ENSP00000272286.2:n.-47_-46delinsCT
ENST00000643284.1:n.521-5500_521-5499delinsCT
ENST00000644611.1:c.76-5500_76-5499delinsCT	ENSP00000495423.1:n.76-5500_76-5499delinsCT
ENST00000272286.2:c.-47_-46delinsCT	ENSP00000272286.2:n.-47_-46delinsCT
NM_022437.2:c.-47_-46delinsCT	NP_071882.1:n.-47_-46delinsCT
XM_005264483.2:c.-47_-46delinsCT	XP_005264540.1:n.-47_-46delinsCT
XM_011533029.1:c.76-5500_76-5499delinsCT	XP_011531331.1:n.76-5500_76-5499delinsCT
XM_011533030.1:c.76-5500_76-5499delinsCT	XP_011531332.1:n.76-5500_76-5499delinsCT
XM_011533031.1:c.-153-5500_-153-5499delinsCT	XP_011531333.1:n.-153-5500_-153-5499delinsCT
XR_939707.1:n.566-5500_566-5499delinsCT
NM_001357321.1:c.-47_-46delinsCT	NP_001344250.1:n.-47_-46delinsCT
XM_011533029.2:c.76-5500_76-5499delinsCT	XP_011531331.1:n.76-5500_76-5499delinsCT
XM_011533030.2:c.76-5500_76-5499delinsCT	XP_011531332.1:n.76-5500_76-5499delinsCT
XR_001738891.1:n.580-5500_580-5499delinsCT
XR_939707.2:n.580-5500_580-5499delinsCT
NM_022437.3:c.-47_-46delinsCT MANE Select	NP_071882.1:n.-47_-46delinsCT
NM_001357321.2:c.-47_-46delinsCT	NP_001344250.1:n.-47_-46delinsCT