Canonical Allele Identifier: CA2658838201

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43878058-ACAGACCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878060_43878067del , CM000664.2:g.43878060_43878067del	GRCh38
NC_000002.11:g.44105199_44105206del , CM000664.1:g.44105199_44105206del	GRCh37
NC_000002.10:g.43958703_43958710del	NCBI36
NG_008884.1:g.44097_44104del
NG_008884.2:g.51119_51126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*147_*154del MANE Select	ENSP00000272286.2:n.*147_*154del
ENST00000272286.2:c.*147_*154del	ENSP00000272286.2:n.*147_*154del
NM_022437.2:c.*147_*154del	NP_071882.1:n.*147_*154del
XM_005264483.2:c.*147_*154del	XP_005264540.1:n.*147_*154del
XM_011533029.1:c.*147_*154del	XP_011531331.1:n.*147_*154del
XM_011533030.1:c.*147_*154del	XP_011531332.1:n.*147_*154del
XM_011533031.1:c.*147_*154del	XP_011531333.1:n.*147_*154del
XR_939707.1:n.2671_2678del
NM_001357321.1:c.*147_*154del	NP_001344250.1:n.*147_*154del
XM_011533029.2:c.*147_*154del	XP_011531331.1:n.*147_*154del
XM_011533030.2:c.*147_*154del	XP_011531332.1:n.*147_*154del
XR_001738891.1:n.2685_2692del
XR_939707.2:n.2685_2692del
NM_022437.3:c.*147_*154del MANE Select	NP_071882.1:n.*147_*154del
NM_001357321.2:c.*147_*154del	NP_001344250.1:n.*147_*154del