Canonical Allele Identifier: CA2493965294

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670022966
• gnomAD v4: 2-43878070-CAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878071_43878074del , CM000664.2:g.43878071_43878074del	GRCh38
NC_000002.11:g.44105210_44105213del , CM000664.1:g.44105210_44105213del	GRCh37
NC_000002.10:g.43958714_43958717del	NCBI36
NG_008884.1:g.44108_44111del
NG_008884.2:g.51130_51133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*158_*161del MANE Select	ENSP00000272286.2:n.*158_*161del
ENST00000272286.2:c.*158_*161del	ENSP00000272286.2:n.*158_*161del
NM_022437.2:c.*158_*161del	NP_071882.1:n.*158_*161del
XM_005264483.2:c.*158_*161del	XP_005264540.1:n.*158_*161del
XM_011533029.1:c.*158_*161del	XP_011531331.1:n.*158_*161del
XM_011533030.1:c.*158_*161del	XP_011531332.1:n.*158_*161del
XM_011533031.1:c.*158_*161del	XP_011531333.1:n.*158_*161del
XR_939707.1:n.2682_2685del
NM_001357321.1:c.*158_*161del	NP_001344250.1:n.*158_*161del
XM_011533029.2:c.*158_*161del	XP_011531331.1:n.*158_*161del
XM_011533030.2:c.*158_*161del	XP_011531332.1:n.*158_*161del
XR_001738891.1:n.2696_2699del
XR_939707.2:n.2696_2699del
NM_022437.3:c.*158_*161del MANE Select	NP_071882.1:n.*158_*161del
NM_001357321.2:c.*158_*161del	NP_001344250.1:n.*158_*161del