Canonical Allele Identifier: CA2658828319

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846597-TCAGCAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846602_43846608del , CM000664.2:g.43846602_43846608del	GRCh38
NC_000002.11:g.44073741_44073747del , CM000664.1:g.44073741_44073747del	GRCh37
NC_000002.10:g.43927245_43927251del	NCBI36
NG_008884.1:g.12639_12645del
NG_008884.2:g.19661_19667del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+291_322+297del MANE Select	ENSP00000272286.2:n.322+291_322+297del
ENST00000643284.1:n.1070_1076del
ENST00000644611.1:c.334+291_334+297del	ENSP00000495423.1:n.334+291_334+297del
ENST00000272286.2:c.322+291_322+297del	ENSP00000272286.2:n.322+291_322+297del
NM_022437.2:c.322+291_322+297del	NP_071882.1:n.322+291_322+297del
XM_005264483.2:c.322+291_322+297del	XP_005264540.1:n.322+291_322+297del
XM_011533029.1:c.334+291_334+297del	XP_011531331.1:n.334+291_334+297del
XM_011533030.1:c.334+291_334+297del	XP_011531332.1:n.334+291_334+297del
XM_011533031.1:c.106+291_106+297del	XP_011531333.1:n.106+291_106+297del
XR_939707.1:n.824+291_824+297del
NM_001357321.1:c.322+291_322+297del	NP_001344250.1:n.322+291_322+297del
XM_011533029.2:c.334+291_334+297del	XP_011531331.1:n.334+291_334+297del
XM_011533030.2:c.334+291_334+297del	XP_011531332.1:n.334+291_334+297del
XR_001738891.1:n.838+291_838+297del
XR_939707.2:n.838+291_838+297del
NM_022437.3:c.322+291_322+297del MANE Select	NP_071882.1:n.322+291_322+297del
NM_001357321.2:c.322+291_322+297del	NP_001344250.1:n.322+291_322+297del