Canonical Allele Identifier: CA2749705225

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846654_43846655insACCACCACCA , CM000664.2:g.43846654_43846655insACCACCACCA	GRCh38
NC_000002.11:g.44073793_44073794insACCACCACCA , CM000664.1:g.44073793_44073794insACCACCACCA	GRCh37
NC_000002.10:g.43927297_43927298insACCACCACCA	NCBI36
NG_008884.1:g.12691_12692insACCACCACCA
NG_008884.2:g.19713_19714insACCACCACCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+343_322+344insACCACCACCA MANE Select	ENSP00000272286.2:n.322+343_322+344insACCACCACCA
ENST00000643284.1:n.1122_1123insACCACCACCA
ENST00000644611.1:c.334+343_334+344insACCACCACCA	ENSP00000495423.1:n.334+343_334+344insACCACCACCA
ENST00000272286.2:c.322+343_322+344insACCACCACCA	ENSP00000272286.2:n.322+343_322+344insACCACCACCA
NM_022437.2:c.322+343_322+344insACCACCACCA	NP_071882.1:n.322+343_322+344insACCACCACCA
XM_005264483.2:c.322+343_322+344insACCACCACCA	XP_005264540.1:n.322+343_322+344insACCACCACCA
XM_011533029.1:c.334+343_334+344insACCACCACCA	XP_011531331.1:n.334+343_334+344insACCACCACCA
XM_011533030.1:c.334+343_334+344insACCACCACCA	XP_011531332.1:n.334+343_334+344insACCACCACCA
XM_011533031.1:c.106+343_106+344insACCACCACCA	XP_011531333.1:n.106+343_106+344insACCACCACCA
XR_939707.1:n.824+343_824+344insACCACCACCA
NM_001357321.1:c.322+343_322+344insACCACCACCA	NP_001344250.1:n.322+343_322+344insACCACCACCA
XM_011533029.2:c.334+343_334+344insACCACCACCA	XP_011531331.1:n.334+343_334+344insACCACCACCA
XM_011533030.2:c.334+343_334+344insACCACCACCA	XP_011531332.1:n.334+343_334+344insACCACCACCA
XR_001738891.1:n.838+343_838+344insACCACCACCA
XR_939707.2:n.838+343_838+344insACCACCACCA
NM_022437.3:c.322+343_322+344insACCACCACCA MANE Select	NP_071882.1:n.322+343_322+344insACCACCACCA
NM_001357321.2:c.322+343_322+344insACCACCACCA	NP_001344250.1:n.322+343_322+344insACCACCACCA