Canonical Allele Identifier: CA46470618

Gene: ABCG8

Linked Data

• dbSNP Id: rs199555536
• MyVariant Identifiers: chr2:g.44102235_44102236insAAC (hg19) ; chr2:g.43875096_43875097insAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875096_43875097insAAC , CM000664.2:g.43875096_43875097insAAC	GRCh38
NC_000002.11:g.44102235_44102236insAAC , CM000664.1:g.44102235_44102236insAAC	GRCh37
NC_000002.10:g.43955739_43955740insAAC	NCBI36
NG_008884.1:g.41133_41134insAAC
NG_008884.2:g.48155_48156insAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-50_1489-49insAAC MANE Select	ENSP00000272286.2:n.1489-50_1489-49insAAC
ENST00000272286.2:c.1489-50_1489-49insAAC	ENSP00000272286.2:n.1489-50_1489-49insAAC
NM_022437.2:c.1489-50_1489-49insAAC	NP_071882.1:n.1489-50_1489-49insAAC
XM_005264483.2:c.1486-50_1486-49insAAC	XP_005264540.1:n.1486-50_1486-49insAAC
XM_011533029.1:c.1501-50_1501-49insAAC	XP_011531331.1:n.1501-50_1501-49insAAC
XM_011533030.1:c.1498-50_1498-49insAAC	XP_011531332.1:n.1498-50_1498-49insAAC
XM_011533031.1:c.1273-50_1273-49insAAC	XP_011531333.1:n.1273-50_1273-49insAAC
XR_939707.1:n.1991-50_1991-49insAAC
NM_001357321.1:c.1486-50_1486-49insAAC	NP_001344250.1:n.1486-50_1486-49insAAC
XM_011533029.2:c.1501-50_1501-49insAAC	XP_011531331.1:n.1501-50_1501-49insAAC
XM_011533030.2:c.1498-50_1498-49insAAC	XP_011531332.1:n.1498-50_1498-49insAAC
XR_001738891.1:n.2005-50_2005-49insAAC
XR_939707.2:n.2005-50_2005-49insAAC
NM_022437.3:c.1489-50_1489-49insAAC MANE Select	NP_071882.1:n.1489-50_1489-49insAAC
NM_001357321.2:c.1486-50_1486-49insAAC	NP_001344250.1:n.1486-50_1486-49insAAC