Canonical Allele Identifier: CA2658838148

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43878002-GAGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878003_43878006del , CM000664.2:g.43878003_43878006del	GRCh38
NC_000002.11:g.44105142_44105145del , CM000664.1:g.44105142_44105145del	GRCh37
NC_000002.10:g.43958646_43958649del	NCBI36
NG_008884.1:g.44040_44043del
NG_008884.2:g.51062_51065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*90_*93del MANE Select	ENSP00000272286.2:n.*90_*93del
ENST00000272286.2:c.*90_*93del	ENSP00000272286.2:n.*90_*93del
NM_022437.2:c.*90_*93del	NP_071882.1:n.*90_*93del
XM_005264483.2:c.*90_*93del	XP_005264540.1:n.*90_*93del
XM_011533029.1:c.*90_*93del	XP_011531331.1:n.*90_*93del
XM_011533030.1:c.*90_*93del	XP_011531332.1:n.*90_*93del
XM_011533031.1:c.*90_*93del	XP_011531333.1:n.*90_*93del
XR_939707.1:n.2614_2617del
NM_001357321.1:c.*90_*93del	NP_001344250.1:n.*90_*93del
XM_011533029.2:c.*90_*93del	XP_011531331.1:n.*90_*93del
XM_011533030.2:c.*90_*93del	XP_011531332.1:n.*90_*93del
XR_001738891.1:n.2628_2631del
XR_939707.2:n.2628_2631del
NM_022437.3:c.*90_*93del MANE Select	NP_071882.1:n.*90_*93del
NM_001357321.2:c.*90_*93del	NP_001344250.1:n.*90_*93del