Canonical Allele Identifier: CA2596915149

Gene: ABCG8

Linked Data

• dbSNP Id: rs2104953015
• gnomAD v3: 2-43878129-CGAT-C
• gnomAD v4: 2-43878129-CGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878132_43878134del , CM000664.2:g.43878132_43878134del	GRCh38
NC_000002.11:g.44105271_44105273del , CM000664.1:g.44105271_44105273del	GRCh37
NC_000002.10:g.43958775_43958777del	NCBI36
NG_008884.1:g.44169_44171del
NG_008884.2:g.51191_51193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*219_*221del MANE Select	ENSP00000272286.2:n.*219_*221del
ENST00000272286.2:c.*219_*221del	ENSP00000272286.2:n.*219_*221del
NM_022437.2:c.*219_*221del	NP_071882.1:n.*219_*221del
XM_005264483.2:c.*219_*221del	XP_005264540.1:n.*219_*221del
XM_011533029.1:c.*219_*221del	XP_011531331.1:n.*219_*221del
XM_011533030.1:c.*219_*221del	XP_011531332.1:n.*219_*221del
XM_011533031.1:c.*219_*221del	XP_011531333.1:n.*219_*221del
XR_939707.1:n.2743_2745del
NM_001357321.1:c.*219_*221del	NP_001344250.1:n.*219_*221del
XM_011533029.2:c.*219_*221del	XP_011531331.1:n.*219_*221del
XM_011533030.2:c.*219_*221del	XP_011531332.1:n.*219_*221del
XR_001738891.1:n.2757_2759del
XR_939707.2:n.2757_2759del
NM_022437.3:c.*219_*221del MANE Select	NP_071882.1:n.*219_*221del
NM_001357321.2:c.*219_*221del	NP_001344250.1:n.*219_*221del