Canonical Allele Identifier: CA2658838163

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43878018-C-CAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878019_43878022dup , CM000664.2:g.43878019_43878022dup	GRCh38
NC_000002.11:g.44105158_44105161dup , CM000664.1:g.44105158_44105161dup	GRCh37
NC_000002.10:g.43958662_43958665dup	NCBI36
NG_008884.1:g.44056_44059dup
NG_008884.2:g.51078_51081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*106_*109dup MANE Select	ENSP00000272286.2:n.*106_*109dup
ENST00000272286.2:c.*106_*109dup	ENSP00000272286.2:n.*106_*109dup
NM_022437.2:c.*106_*109dup	NP_071882.1:n.*106_*109dup
XM_005264483.2:c.*106_*109dup	XP_005264540.1:n.*106_*109dup
XM_011533029.1:c.*106_*109dup	XP_011531331.1:n.*106_*109dup
XM_011533030.1:c.*106_*109dup	XP_011531332.1:n.*106_*109dup
XM_011533031.1:c.*106_*109dup	XP_011531333.1:n.*106_*109dup
XR_939707.1:n.2630_2633dup
NM_001357321.1:c.*106_*109dup	NP_001344250.1:n.*106_*109dup
XM_011533029.2:c.*106_*109dup	XP_011531331.1:n.*106_*109dup
XM_011533030.2:c.*106_*109dup	XP_011531332.1:n.*106_*109dup
XR_001738891.1:n.2644_2647dup
XR_939707.2:n.2644_2647dup
NM_022437.3:c.*106_*109dup MANE Select	NP_071882.1:n.*106_*109dup
NM_001357321.2:c.*106_*109dup	NP_001344250.1:n.*106_*109dup