Canonical Allele Identifier: CA2493941423

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839343_43839344delinsGA , CM000664.2:g.43839343_43839344delinsGA	GRCh38
NC_000002.11:g.44066482_44066483delinsGA , CM000664.1:g.44066482_44066483delinsGA	GRCh37
NC_000002.10:g.43919986_43919987delinsGA	NCBI36
NG_008883.1:g.4476_4477delinsTC
NG_008884.1:g.5380_5381delinsGA
NG_008884.2:g.12402_12403delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+227_63+228delinsGA MANE Select	ENSP00000272286.2:n.63+227_63+228delinsGA
ENST00000643284.1:n.521-5164_521-5163delinsGA
ENST00000644611.1:c.76-5164_76-5163delinsGA	ENSP00000495423.1:n.76-5164_76-5163delinsGA
ENST00000272286.2:c.63+227_63+228delinsGA	ENSP00000272286.2:n.63+227_63+228delinsGA
NM_022437.2:c.63+227_63+228delinsGA	NP_071882.1:n.63+227_63+228delinsGA
XM_005264483.2:c.63+227_63+228delinsGA	XP_005264540.1:n.63+227_63+228delinsGA
XM_011533029.1:c.76-5164_76-5163delinsGA	XP_011531331.1:n.76-5164_76-5163delinsGA
XM_011533030.1:c.76-5164_76-5163delinsGA	XP_011531332.1:n.76-5164_76-5163delinsGA
XM_011533031.1:c.-153-5164_-153-5163delinsGA	XP_011531333.1:n.-153-5164_-153-5163delinsGA
XR_939707.1:n.566-5164_566-5163delinsGA
NM_001357321.1:c.63+227_63+228delinsGA	NP_001344250.1:n.63+227_63+228delinsGA
XM_011533029.2:c.76-5164_76-5163delinsGA	XP_011531331.1:n.76-5164_76-5163delinsGA
XM_011533030.2:c.76-5164_76-5163delinsGA	XP_011531332.1:n.76-5164_76-5163delinsGA
XR_001738891.1:n.580-5164_580-5163delinsGA
XR_939707.2:n.580-5164_580-5163delinsGA
NM_022437.3:c.63+227_63+228delinsGA MANE Select	NP_071882.1:n.63+227_63+228delinsGA
NM_001357321.2:c.63+227_63+228delinsGA	NP_001344250.1:n.63+227_63+228delinsGA