Canonical Allele Identifier: CA2493965293

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878070_43878074delinsCAGGA , CM000664.2:g.43878070_43878074delinsCAGGA	GRCh38
NC_000002.11:g.44105209_44105213delinsCAGGA , CM000664.1:g.44105209_44105213delinsCAGGA	GRCh37
NC_000002.10:g.43958713_43958717delinsCAGGA	NCBI36
NG_008884.1:g.44107_44111delinsCAGGA
NG_008884.2:g.51129_51133delinsCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*157_*161delinsCAGGA MANE Select	ENSP00000272286.2:n.*157_*161delinsCAGGA
ENST00000272286.2:c.*157_*161delinsCAGGA	ENSP00000272286.2:n.*157_*161delinsCAGGA
NM_022437.2:c.*157_*161delinsCAGGA	NP_071882.1:n.*157_*161delinsCAGGA
XM_005264483.2:c.*157_*161delinsCAGGA	XP_005264540.1:n.*157_*161delinsCAGGA
XM_011533029.1:c.*157_*161delinsCAGGA	XP_011531331.1:n.*157_*161delinsCAGGA
XM_011533030.1:c.*157_*161delinsCAGGA	XP_011531332.1:n.*157_*161delinsCAGGA
XM_011533031.1:c.*157_*161delinsCAGGA	XP_011531333.1:n.*157_*161delinsCAGGA
XR_939707.1:n.2681_2685delinsCAGGA
NM_001357321.1:c.*157_*161delinsCAGGA	NP_001344250.1:n.*157_*161delinsCAGGA
XM_011533029.2:c.*157_*161delinsCAGGA	XP_011531331.1:n.*157_*161delinsCAGGA
XM_011533030.2:c.*157_*161delinsCAGGA	XP_011531332.1:n.*157_*161delinsCAGGA
XR_001738891.1:n.2695_2699delinsCAGGA
XR_939707.2:n.2695_2699delinsCAGGA
NM_022437.3:c.*157_*161delinsCAGGA MANE Select	NP_071882.1:n.*157_*161delinsCAGGA
NM_001357321.2:c.*157_*161delinsCAGGA	NP_001344250.1:n.*157_*161delinsCAGGA