Canonical Allele Identifier: CA647006888

Gene: ABCG8

Linked Data

• COSMIC: COSN21658732

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877978_43877979insT , CM000664.2:g.43877978_43877979insT	GRCh38
NC_000002.11:g.44105117_44105118insT , CM000664.1:g.44105117_44105118insT	GRCh37
NC_000002.10:g.43958621_43958622insT	NCBI36
NG_008884.1:g.44015_44016insT
NG_008884.2:g.51037_51038insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*65_*66insT MANE Select	ENSP00000272286.2:n.*65_*66insT
ENST00000272286.2:c.*65_*66insT	ENSP00000272286.2:n.*65_*66insT
NM_022437.2:c.*65_*66insT	NP_071882.1:n.*65_*66insT
XM_005264483.2:c.*65_*66insT	XP_005264540.1:n.*65_*66insT
XM_011533029.1:c.*65_*66insT	XP_011531331.1:n.*65_*66insT
XM_011533030.1:c.*65_*66insT	XP_011531332.1:n.*65_*66insT
XM_011533031.1:c.*65_*66insT	XP_011531333.1:n.*65_*66insT
XR_939707.1:n.2589_2590insT
NM_001357321.1:c.*65_*66insT	NP_001344250.1:n.*65_*66insT
XM_011533029.2:c.*65_*66insT	XP_011531331.1:n.*65_*66insT
XM_011533030.2:c.*65_*66insT	XP_011531332.1:n.*65_*66insT
XR_001738891.1:n.2603_2604insT
XR_939707.2:n.2603_2604insT
NM_022437.3:c.*65_*66insT MANE Select	NP_071882.1:n.*65_*66insT
NM_001357321.2:c.*65_*66insT	NP_001344250.1:n.*65_*66insT