Canonical Allele Identifier: CA2749705231

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846720_43846721insGT , CM000664.2:g.43846720_43846721insGT	GRCh38
NC_000002.11:g.44073859_44073860insGT , CM000664.1:g.44073859_44073860insGT	GRCh37
NC_000002.10:g.43927363_43927364insGT	NCBI36
NG_008884.1:g.12757_12758insGT
NG_008884.2:g.19779_19780insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+409_322+410insGT MANE Select	ENSP00000272286.2:n.322+409_322+410insGT
ENST00000643284.1:n.1188_1189insGT
ENST00000644611.1:c.334+409_334+410insGT	ENSP00000495423.1:n.334+409_334+410insGT
ENST00000272286.2:c.322+409_322+410insGT	ENSP00000272286.2:n.322+409_322+410insGT
NM_022437.2:c.322+409_322+410insGT	NP_071882.1:n.322+409_322+410insGT
XM_005264483.2:c.322+409_322+410insGT	XP_005264540.1:n.322+409_322+410insGT
XM_011533029.1:c.334+409_334+410insGT	XP_011531331.1:n.334+409_334+410insGT
XM_011533030.1:c.334+409_334+410insGT	XP_011531332.1:n.334+409_334+410insGT
XM_011533031.1:c.106+409_106+410insGT	XP_011531333.1:n.106+409_106+410insGT
XR_939707.1:n.824+409_824+410insGT
NM_001357321.1:c.322+409_322+410insGT	NP_001344250.1:n.322+409_322+410insGT
XM_011533029.2:c.334+409_334+410insGT	XP_011531331.1:n.334+409_334+410insGT
XM_011533030.2:c.334+409_334+410insGT	XP_011531332.1:n.334+409_334+410insGT
XR_001738891.1:n.838+409_838+410insGT
XR_939707.2:n.838+409_838+410insGT
NM_022437.3:c.322+409_322+410insGT MANE Select	NP_071882.1:n.322+409_322+410insGT
NM_001357321.2:c.322+409_322+410insGT	NP_001344250.1:n.322+409_322+410insGT