Canonical Allele Identifier: CA2658838073

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877683-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877685_43877686del , CM000664.2:g.43877685_43877686del	GRCh38
NC_000002.11:g.44104824_44104825del , CM000664.1:g.44104824_44104825del	GRCh37
NC_000002.10:g.43958328_43958329del	NCBI36
NG_008884.1:g.43722_43723del
NG_008884.2:g.50744_50745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1881_1882del MANE Select	ENSP00000272286.2:p.Asp627GlufsTer?
ENST00000272286.2:c.1881_1882del	ENSP00000272286.2:p.Asp627GlufsTer?
NM_022437.2:c.1881_1882del	NP_071882.1:p.Asp627GlufsTer?
XM_005264483.2:c.1878_1879del	XP_005264540.1:p.Asp626GlufsTer?
XM_011533029.1:c.1893_1894del	XP_011531331.1:p.Asp631GlufsTer?
XM_011533030.1:c.1890_1891del	XP_011531332.1:p.Asp630GlufsTer?
XM_011533031.1:c.1665_1666del	XP_011531333.1:p.Asp555GlufsTer?
XR_939707.1:n.2383_2384del
NM_001357321.1:c.1878_1879del	NP_001344250.1:p.Asp626GlufsTer?
XM_011533029.2:c.1893_1894del	XP_011531331.1:p.Asp631GlufsTer?
XM_011533030.2:c.1890_1891del	XP_011531332.1:p.Asp630GlufsTer?
XR_001738891.1:n.2397_2398del
XR_939707.2:n.2397_2398del
NM_022437.3:c.1881_1882del MANE Select	NP_071882.1:p.Asp627GlufsTer?
NM_001357321.2:c.1878_1879del	NP_001344250.1:p.Asp626GlufsTer?