Canonical Allele Identifier: CA2658838149

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43878003-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878005dup , CM000664.2:g.43878005dup	GRCh38
NC_000002.11:g.44105144dup , CM000664.1:g.44105144dup	GRCh37
NC_000002.10:g.43958648dup	NCBI36
NG_008884.1:g.44042dup
NG_008884.2:g.51064dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*92dup MANE Select	ENSP00000272286.2:n.*92dup
ENST00000272286.2:c.*92dup	ENSP00000272286.2:n.*92dup
NM_022437.2:c.*92dup	NP_071882.1:n.*92dup
XM_005264483.2:c.*92dup	XP_005264540.1:n.*92dup
XM_011533029.1:c.*92dup	XP_011531331.1:n.*92dup
XM_011533030.1:c.*92dup	XP_011531332.1:n.*92dup
XM_011533031.1:c.*92dup	XP_011531333.1:n.*92dup
XR_939707.1:n.2616dup
NM_001357321.1:c.*92dup	NP_001344250.1:n.*92dup
XM_011533029.2:c.*92dup	XP_011531331.1:n.*92dup
XM_011533030.2:c.*92dup	XP_011531332.1:n.*92dup
XR_001738891.1:n.2630dup
XR_939707.2:n.2630dup
NM_022437.3:c.*92dup MANE Select	NP_071882.1:n.*92dup
NM_001357321.2:c.*92dup	NP_001344250.1:n.*92dup