Canonical Allele Identifier: CA2493945392

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846725_43846729delinsTCAGA , CM000664.2:g.43846725_43846729delinsTCAGA	GRCh38
NC_000002.11:g.44073864_44073868delinsTCAGA , CM000664.1:g.44073864_44073868delinsTCAGA	GRCh37
NC_000002.10:g.43927368_43927372delinsTCAGA	NCBI36
NG_008884.1:g.12762_12766delinsTCAGA
NG_008884.2:g.19784_19788delinsTCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+414_322+418delinsTCAGA MANE Select	ENSP00000272286.2:n.322+414_322+418delinsTCAGA
ENST00000643284.1:n.1193_1197delinsTCAGA
ENST00000644611.1:c.334+414_334+418delinsTCAGA	ENSP00000495423.1:n.334+414_334+418delinsTCAGA
ENST00000272286.2:c.322+414_322+418delinsTCAGA	ENSP00000272286.2:n.322+414_322+418delinsTCAGA
NM_022437.2:c.322+414_322+418delinsTCAGA	NP_071882.1:n.322+414_322+418delinsTCAGA
XM_005264483.2:c.322+414_322+418delinsTCAGA	XP_005264540.1:n.322+414_322+418delinsTCAGA
XM_011533029.1:c.334+414_334+418delinsTCAGA	XP_011531331.1:n.334+414_334+418delinsTCAGA
XM_011533030.1:c.334+414_334+418delinsTCAGA	XP_011531332.1:n.334+414_334+418delinsTCAGA
XM_011533031.1:c.106+414_106+418delinsTCAGA	XP_011531333.1:n.106+414_106+418delinsTCAGA
XR_939707.1:n.824+414_824+418delinsTCAGA
NM_001357321.1:c.322+414_322+418delinsTCAGA	NP_001344250.1:n.322+414_322+418delinsTCAGA
XM_011533029.2:c.334+414_334+418delinsTCAGA	XP_011531331.1:n.334+414_334+418delinsTCAGA
XM_011533030.2:c.334+414_334+418delinsTCAGA	XP_011531332.1:n.334+414_334+418delinsTCAGA
XR_001738891.1:n.838+414_838+418delinsTCAGA
XR_939707.2:n.838+414_838+418delinsTCAGA
NM_022437.3:c.322+414_322+418delinsTCAGA MANE Select	NP_071882.1:n.322+414_322+418delinsTCAGA
NM_001357321.2:c.322+414_322+418delinsTCAGA	NP_001344250.1:n.322+414_322+418delinsTCAGA