Canonical Allele Identifier: CA2493941101

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43838956_43838957delinsTG , CM000664.2:g.43838956_43838957delinsTG	GRCh38
NC_000002.11:g.44066095_44066096delinsTG , CM000664.1:g.44066095_44066096delinsTG	GRCh37
NC_000002.10:g.43919599_43919600delinsTG	NCBI36
NG_008883.1:g.4863_4864delinsCA
NG_008884.1:g.4993_4994delinsTG
NG_008884.2:g.12015_12016delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643284.1:n.521-5551_521-5550delinsTG
ENST00000644611.1:c.76-5551_76-5550delinsTG	ENSP00000495423.1:n.76-5551_76-5550delinsTG
XM_011533029.1:c.76-5551_76-5550delinsTG	XP_011531331.1:n.76-5551_76-5550delinsTG
XM_011533030.1:c.76-5551_76-5550delinsTG	XP_011531332.1:n.76-5551_76-5550delinsTG
XM_011533031.1:c.-153-5551_-153-5550delinsTG	XP_011531333.1:n.-153-5551_-153-5550delinsTG
XR_939707.1:n.566-5551_566-5550delinsTG
XM_011533029.2:c.76-5551_76-5550delinsTG	XP_011531331.1:n.76-5551_76-5550delinsTG
XM_011533030.2:c.76-5551_76-5550delinsTG	XP_011531332.1:n.76-5551_76-5550delinsTG
XR_001738891.1:n.580-5551_580-5550delinsTG
XR_939707.2:n.580-5551_580-5550delinsTG