Canonical Allele Identifier: CA2658828392

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846706-C-CGAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846706_43846707insGAGAT , CM000664.2:g.43846706_43846707insGAGAT	GRCh38
NC_000002.11:g.44073845_44073846insGAGAT , CM000664.1:g.44073845_44073846insGAGAT	GRCh37
NC_000002.10:g.43927349_43927350insGAGAT	NCBI36
NG_008884.1:g.12743_12744insGAGAT
NG_008884.2:g.19765_19766insGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+395_322+396insGAGAT MANE Select	ENSP00000272286.2:n.322+395_322+396insGAGAT
ENST00000643284.1:n.1174_1175insGAGAT
ENST00000644611.1:c.334+395_334+396insGAGAT	ENSP00000495423.1:n.334+395_334+396insGAGAT
ENST00000272286.2:c.322+395_322+396insGAGAT	ENSP00000272286.2:n.322+395_322+396insGAGAT
NM_022437.2:c.322+395_322+396insGAGAT	NP_071882.1:n.322+395_322+396insGAGAT
XM_005264483.2:c.322+395_322+396insGAGAT	XP_005264540.1:n.322+395_322+396insGAGAT
XM_011533029.1:c.334+395_334+396insGAGAT	XP_011531331.1:n.334+395_334+396insGAGAT
XM_011533030.1:c.334+395_334+396insGAGAT	XP_011531332.1:n.334+395_334+396insGAGAT
XM_011533031.1:c.106+395_106+396insGAGAT	XP_011531333.1:n.106+395_106+396insGAGAT
XR_939707.1:n.824+395_824+396insGAGAT
NM_001357321.1:c.322+395_322+396insGAGAT	NP_001344250.1:n.322+395_322+396insGAGAT
XM_011533029.2:c.334+395_334+396insGAGAT	XP_011531331.1:n.334+395_334+396insGAGAT
XM_011533030.2:c.334+395_334+396insGAGAT	XP_011531332.1:n.334+395_334+396insGAGAT
XR_001738891.1:n.838+395_838+396insGAGAT
XR_939707.2:n.838+395_838+396insGAGAT
NM_022437.3:c.322+395_322+396insGAGAT MANE Select	NP_071882.1:n.322+395_322+396insGAGAT
NM_001357321.2:c.322+395_322+396insGAGAT	NP_001344250.1:n.322+395_322+396insGAGAT