Canonical Allele Identifier: CA2658831264

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875221-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875223del , CM000664.2:g.43875223del	GRCh38
NC_000002.11:g.44102362del , CM000664.1:g.44102362del	GRCh37
NC_000002.10:g.43955866del	NCBI36
NG_008884.1:g.41260del
NG_008884.2:g.48282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1566del MANE Select	ENSP00000272286.2:p.Arg522SerfsTer?
ENST00000272286.2:c.1566del	ENSP00000272286.2:p.Arg522SerfsTer?
NM_022437.2:c.1566del	NP_071882.1:p.Arg522SerfsTer?
XM_005264483.2:c.1563del	XP_005264540.1:p.Arg521SerfsTer?
XM_011533029.1:c.1578del	XP_011531331.1:p.Arg526SerfsTer?
XM_011533030.1:c.1575del	XP_011531332.1:p.Arg525SerfsTer?
XM_011533031.1:c.1350del	XP_011531333.1:p.Arg450SerfsTer?
XR_939707.1:n.2068del
NM_001357321.1:c.1563del	NP_001344250.1:p.Arg521SerfsTer?
XM_011533029.2:c.1578del	XP_011531331.1:p.Arg526SerfsTer?
XM_011533030.2:c.1575del	XP_011531332.1:p.Arg525SerfsTer?
XR_001738891.1:n.2082del
XR_939707.2:n.2082del
NM_022437.3:c.1566del MANE Select	NP_071882.1:p.Arg522SerfsTer?
NM_001357321.2:c.1563del	NP_001344250.1:p.Arg521SerfsTer?