Canonical Allele Identifier: CA2493965332

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878151_43878162delinsACTCGGTGGCAC , CM000664.2:g.43878151_43878162delinsACTCGGTGGCAC	GRCh38
NC_000002.11:g.44105290_44105301delinsACTCGGTGGCAC , CM000664.1:g.44105290_44105301delinsACTCGGTGGCAC	GRCh37
NC_000002.10:g.43958794_43958805delinsACTCGGTGGCAC	NCBI36
NG_008884.1:g.44188_44199delinsACTCGGTGGCAC
NG_008884.2:g.51210_51221delinsACTCGGTGGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*238_*249delinsACTCGGTGGCAC MANE Select	ENSP00000272286.2:n.*238_*249delinsACTCGGTGGCAC
ENST00000272286.2:c.*238_*249delinsACTCGGTGGCAC	ENSP00000272286.2:n.*238_*249delinsACTCGGTGGCAC
NM_022437.2:c.*238_*249delinsACTCGGTGGCAC	NP_071882.1:n.*238_*249delinsACTCGGTGGCAC
XM_005264483.2:c.*238_*249delinsACTCGGTGGCAC	XP_005264540.1:n.*238_*249delinsACTCGGTGGCAC
XM_011533029.1:c.*238_*249delinsACTCGGTGGCAC	XP_011531331.1:n.*238_*249delinsACTCGGTGGCAC
XM_011533030.1:c.*238_*249delinsACTCGGTGGCAC	XP_011531332.1:n.*238_*249delinsACTCGGTGGCAC
XM_011533031.1:c.*238_*249delinsACTCGGTGGCAC	XP_011531333.1:n.*238_*249delinsACTCGGTGGCAC
XR_939707.1:n.2762_2773delinsACTCGGTGGCAC
NM_001357321.1:c.*238_*249delinsACTCGGTGGCAC	NP_001344250.1:n.*238_*249delinsACTCGGTGGCAC
XM_011533029.2:c.*238_*249delinsACTCGGTGGCAC	XP_011531331.1:n.*238_*249delinsACTCGGTGGCAC
XM_011533030.2:c.*238_*249delinsACTCGGTGGCAC	XP_011531332.1:n.*238_*249delinsACTCGGTGGCAC
XR_001738891.1:n.2776_2787delinsACTCGGTGGCAC
XR_939707.2:n.2776_2787delinsACTCGGTGGCAC
NM_022437.3:c.*238_*249delinsACTCGGTGGCAC MANE Select	NP_071882.1:n.*238_*249delinsACTCGGTGGCAC
NM_001357321.2:c.*238_*249delinsACTCGGTGGCAC	NP_001344250.1:n.*238_*249delinsACTCGGTGGCAC