Canonical Allele Identifier: CA2658828102

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846325-A-AAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846326_43846329dup , CM000664.2:g.43846326_43846329dup	GRCh38
NC_000002.11:g.44073465_44073468dup , CM000664.1:g.44073465_44073468dup	GRCh37
NC_000002.10:g.43926969_43926972dup	NCBI36
NG_008884.1:g.12363_12366dup
NG_008884.2:g.19385_19388dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+15_322+18dup MANE Select	ENSP00000272286.2:n.322+15_322+18dup
ENST00000643284.1:n.794_797dup
ENST00000644611.1:c.334+15_334+18dup	ENSP00000495423.1:n.334+15_334+18dup
ENST00000272286.2:c.322+15_322+18dup	ENSP00000272286.2:n.322+15_322+18dup
NM_022437.2:c.322+15_322+18dup	NP_071882.1:n.322+15_322+18dup
XM_005264483.2:c.322+15_322+18dup	XP_005264540.1:n.322+15_322+18dup
XM_011533029.1:c.334+15_334+18dup	XP_011531331.1:n.334+15_334+18dup
XM_011533030.1:c.334+15_334+18dup	XP_011531332.1:n.334+15_334+18dup
XM_011533031.1:c.106+15_106+18dup	XP_011531333.1:n.106+15_106+18dup
XR_939707.1:n.824+15_824+18dup
NM_001357321.1:c.322+15_322+18dup	NP_001344250.1:n.322+15_322+18dup
XM_011533029.2:c.334+15_334+18dup	XP_011531331.1:n.334+15_334+18dup
XM_011533030.2:c.334+15_334+18dup	XP_011531332.1:n.334+15_334+18dup
XR_001738891.1:n.838+15_838+18dup
XR_939707.2:n.838+15_838+18dup
NM_022437.3:c.322+15_322+18dup MANE Select	NP_071882.1:n.322+15_322+18dup
NM_001357321.2:c.322+15_322+18dup	NP_001344250.1:n.322+15_322+18dup